JAGT - 4th Quarter 2016

The Journal

of the Association of Genetic Technologists

Volume 42 • Number 4 • Fourth Quarter 2016

Brain Tickler

Column Editor: Helen Lawce

Brain Tickler

Submitted by:

Peripheral blood was received on an 8-year-old female with submucous cleft palate.

Helen Lawce Knight Diagnostic Cytogenetics Laboratory Oregon Health & Science University Portland, Oregon

The answer to this Brain Tickler appears on page 192.

The Journal of the Association of Genetic Technologists Fourth Quarter 2016 Volume 42, Number 4

Table of Contents

The official journal of the AGT

Brain Tickler. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Inside Front Cover Column Editors and Review Board . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 176 A Note from the Editor. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 177

Editorial Information Editor Mark Terry, BSc Associate Editors Turid Knutsen, MT(ASCP), CLSp(CG) Helen Lawce, BSc, CLSp(CG) Heather E. Williams, MS, CG(ASCP)CM Su Yang, BSc, CLSp(CG) Book Review Editor Helen Lawce, BSc, CLSp(CG) Copyright © 2016 by the AGT. All rights reserved. Contents are not to be reproduced or reprinted without permission of the AGT Editor.

The Journal of the Association of Genetic Technologists is published four times a year and is available to individuals and libraries at a subscription rate of $115 per year. The subscription rate for members of the AGT is included in the annual membership dues.

Back issues can be purchased for members at $5 per issue and for non-members at $25 per issue as long as supplies are available.

Material intended for publication or correspondence concerning editorial matters should be sent to the editor.

JAGT Editor Mark Terry 1264 Keble Lane Oxford, MI 48371 586-805-9407 (cell) 248-628-3025 (phone/fax) Email: markterry@charter.net Placement service items of less than 150 words and advertisements, requests for back issues, reprint orders, and questions about subscriptions and advertising costs should be sent to the AGT Executive Office at agt-info@kellencompany.com. Acceptance of advertisements is dependent on approval of the editor-in-chief.

Case Study A New Rhesus Macaque Karyotype Based on Human-rhesus Synteny Nichole M. Owen, Helen J. Lawce, and Susan B. Olson. . . . . . . . . . . . . . . . . . . . . . . . . 178 Teaching Case Study Acute Myeloid Leukemia with inv(16)(p13.1q22) Juli-Anne Gardner, MD and Katherine Devitt, MD. . . . . . . . . . . . . . . . . . . . . . . . . . . . . 180 Case Study Ring Chromosome 7: A Rare Structural Abnormality in Acute Myeloid Leukemia (AML) Kristie Q. Liu and Carlos A. Tirado. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 181 Molecular Diagnostics A Brief Reflection

By Michelle Mah & Anna Haasen. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 187 Profiles and Perspectives Claudia Wiersch, B.S. Interviewed by Hon Fong L. Mark. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 190 Brain Tickler Summary. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 192 Continuing Education Opportunities Test Yourself #4, 2016 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 193 AGT Journal Clubs . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 196 Association Bu siness Message from the President. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 203 Association of Genetic Technologists BOD Contacts. . . . . . . . . . . . . . . . . . . . . . . . . 204 AGT 2017 Call for Abstracts. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 205 Student Research Award. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 206 FGT Letter. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 209 2017 FGT Grants and Awards Deadlines. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 210 FGT Board of Trustees. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 211 Product Order Form. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 215 2017-2018 Scientific Meetings Schedule. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 216 Job Placements. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 217 New Membership Application . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 218 Information for Authors. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Inside Back Cover

ISSN 1523-7834

The Journal of the Association of Genetic Technologists is indexed in the life sciences database BIOSIS and in the National Library of Medicine’s PubMed. The Journal of the Association of Genetic Technologists 42 (4) 2016

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The Journal of the Association of Genetic Technologists Staff

Column Editors Abstract Reviews/Genetics in the News Jaime Garcia-Heras, MD, PhD Director of Cytogenetics The Center for Medical Genetics 7400 Fannin, Suite 700 Houston, TX 77054 713-432-1991 713-432-1661 FAX jgarcia@geneticstesting.com Brain Tickler/Book Review Editor Helen Lawce, BSc, CLSp(CG) Clinical Cytogenetics Laboratory Oregon Health Sciences University 3181 SW Sam Jackson Parkway MP-350 Portland, OR 97201 503-494-2790 503-494-6104 FAX lawceh@ohsu.edu

Genetics, Government & Regulation Helen Bixenman, MBA, CLSup, CLSp(CG) San Diego Blood Bank 3636 Gateway Center Avenue, Suite 100 San Diego, CA 92102 619-400-8254 hbixenman@sandiegobloodbank.org Jennifer Crawford-Alvares Cytogenetic Technologist II Section of Hematology/Oncology The University of Chicago Medicine 5841 S. Maryland Ave., Rm. I-304 Chicago, IL jen.crawford34@gmail.com Office: 773-702-9153

Meeting Notices Jun Gu, MD, PhD, CG(ASCP)CM University of Texas MD Anderson Cancer Center School of Health Professions Cytogenetic Technology Program 1515 Holcombe Blvd., Unit 2 Houston, TX 77030 713-563-3094 jungu@mdanderson.org Molecular Diagnostics Michelle Mah, MLT, MB(ASCP)CM Advanced Diagnostics Lab Princess Margaret Cancer Centre University Health Network 610 University Ave. Toronto, Ontario Canada M5G 2M9 416-946-4501 ext.5036 michelle.j.mah@gmail.com

Letters to the Editor Mark Terry, JAGT Editor 1264 Keble Lane Oxford, MI 48371 586-805-9407 (cell) 248-628-3025 (phone/FAX) markterry@charter.net

Special Interests Turid Knutsen, MT(ASCP), CLSp(CG) 17836 Shotley Bridge Place Olney, MD 20832 301-570-4965 knutsent@earthlink.net Test Yourself Sally J. Kochmar, MS, CG(ASCP)CM Magee-Womens Hospital Pittsburgh Cytogenetics Lab 300 Halket St., Room 1233 Pittsburgh, PA 15213 412-641-4882 skochmar@upmc.edu

Profiles & Perspectives Hon Fong Louie Mark, PhD, FACMG President KRAM Corporation 2 Pine Top Road Barrington, RI 02806 401-246-0487 HonFong_Mark@Brown.edu

Review Board Linda Ashworth, BSc, CLSp(CG) (Cytogenetics, Molecular genetics) Helen Bixenman, BSc, CLSp(CG), CLSup (Prenatal diagnosis) Judith Brown, MS, CLSp(CG), CLSp(MB) (Cytogenetics) Kim Bussey, PhD (Cancer genetics, Molecular genetics, Microdissection/PCR/DNA) Mona CantĂş, BSc, CLSp(CG) (Cytogenetics) Anthony Ciminski, CG(ASCP)CM Molecular Genetics, Molecular Cytogenetics Adam Coovadia, CLSpP(CG, MG) (Traditional, Molecular, Regulatory) Philip D. Cotter, PhD, FACMG (Prenatal diagnosis, Chromosome rearrangements, Molecular genetics) Jennifer Costanzo, MS, CLSp(CG) (Cytogenetics, Molecular genetics) Janet Cowan, PhD (Cytogenetics, Cancer genetics, FISH, Solid tumors) Lezlie Densmore, BSc, CLSp(CG) (Cytogenetics, Molecular genetics) Janet Finan, BSc, CLSp(CG) (Hemic neoplasms, Somatic cell hybridization) Lakshan Fonseka, MS (Cytogenetics, Molecular genetics)

Sue Fox, BSc, CLSp(CG) (Bone marrow cytogenetics, Prenatal diagnosis, Supervisory/Management) Jaime Garcia-Heras, MD, PhD (Clinical cytogenetics) Robert Gasparini, MS, CLSp(CG) (Prenatal diagnosis, Cytogenetics) Barbara K. Goodman, PhD, MSc, CLSp(CG) (Molecular cytogenetics)

Hon Fong Louie Mark, PhD, FACMG (Molecular genetics, Somatic cell genetics, Cancer cytogenetics, Breast cancer, Trisomies, Laboratory practices, Regulatory practices, FISH) Jennifer L. McGonigle, BA, CLSp(CG) (Cytogenetics) Karen Dyer Montgomery, PhD, FACMG (Cancer cytogenetics, Cytogenetics, Molecular cytogenetics)

Debra Saxe, PhD (Prenatal diagnosis, Cytogenetics) Jack L. Spurbeck, BSc, CLSp(CG) (Cancer cytogenetics, Molecular genetics) Peggy Stupca, MSc, CLSp(CG) (Cytogenetics, Prenatal diagnosis, Breakage syndromes, FISH, Regulations/ QA)

Nancy Taylor, BSc, CLSp(CG), MT(ASCP) (Cytogenetics, Cancer cytogenetics) Stephen R. Moore, PhD, ABMG Michelle M. Hess, MS, CLSp(CG) (Clinical cytogenetics, radiation biology, (Cytogenetics, Cancer cytogenetics) Thomas Wan, PhD toxicology; clinical molecular genetics) (Cytogenetics, Molecular genetics, Lynn Hoyt, BSc, CLSp(CG), CLSup Cancer genetics) Rodman Morgan, MS, CLSp(CG) (Classical cytogenetics) (Cancer cytogenetics) James Waurin, MSc, CLSp(CG) Peter C. Hu, PhD, MS, MLS(ASCP), CG, MB (Prenatal diagnosis, Counseling) Susan B. Olson, PhD (Cytogenetics, Molecular cytogenetics, (Cancer cytogenetics, Molecular Sara Wechter, BSc Education) genetics, Prenatal diagnosis, OB/GYN, (Cytogenetics, Cancer) Counseling, Cytogenetics) Denise M. Juroske, MSFS, MB(ASCP)CM (Cytogenetics, Molecular, Education) Heather E. Williams, MS, CG(ASCP)CM Jonathan P. Park, PhD (Cytogenetics, Molecular Genetics) (Cytogenetics, Molecular genetics, Julia Kawecki, BSc, CLSp(CG) Cell biology) (Cytogenetics, Molecular genetics) Su Yang, BSc, CLSP(CG) (Education, Traditional Cytogenetics) David Peakman, AIMLT, CLSp(CG) Turid Knutsen, MT(ASCP), CLSp(CG) (Prenatal diagnosis) (Cancer cytogenetics, CGH, SKY) Jason A. Yuhas, BS, CG(ASCP)CM (Cytogenetics, Molecular cytogenetics) Carol Reifsteck, BA Brandon Kubala, BSc, CLSp(CG) (Breakage syndromes, Fanconi’s (Traditional Cytogenetics) James Zabawski, MS, CLSp(CG) anemia, Prenatal diagnosis) (Education, Traditional Cytogenetics) Anita Kulharya, PhD Gavin P. Robertson, PhD (Molecular genetics, Clinical (Cytogenetics, Molecular genetics, cytogenetics) Somatic cell genetics, Tumor suppressor Helen Lawce, BSc, CLSp(CG) genes, Cancer genes) (Prenatal diagnosis, Solid tumors, FISH, Laurel Sakaluk-Moody, MSc, MLT(CG) Chromosome structure, Evolution) (Cytogenetics, Developmental biology, Prenatal cytogenetics)

The Journal of the Association of Genetic Technologists 42 (3) 2016

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A Note from the Editor

The Association of Genetic Technologists As usual, the AGT faces challenges. There are a number of factors, but they include decreasing membership. Part of this is likely related to lack of support by employers, although the membership fee for AGT is fairly nominal. It’s also consistent with wider trends that professional organizations are having with dwindling memberships nationally.

Another likely factor is that the organization began 40+ years ago as The Association of Cytogenetic Technologists. Although karyotyping is still mostly considered the gold standard for chromosomal changes and chromosome-related diagnostics, it’s clear that the inclusion of a variety of methods—FISH, microarrays, and next generation sequencing, to name a few—is both an adjunct and a replacement for it.

Does that mean that karyotyping will go away? Well, never say never, but probably not. But it may become a confirmation test when other modalities are inconclusive, or just part of a laboratory’s arsenal of techniques.

But an outcome of this shift has been that molecular techniques are used for far more than chromosomal studies. This has had a big impact on the technologists working in the field and how laboratories and their institutions split up duties.

What I mean by this is that if the microbiology laboratory, the hematology laboratory, etc., are using the same technology and tech platforms, from a financial and workflow point of view, it makes sense to not split them out into separate “cytogenetic laboratory” or “molecular diagnostics lab.” Rather than a specific segment of laboratories, genetic lab tests are being performed by whichever laboratory has the technology that supports it. But that varies from institution to institution.

However, one reason the ACT became the AGT was because of those changes, as well as to appeal to a broader group of laboratory professionals.

Other factors?

One of the reasons ACT was originally created was as an opportunity for cytogenetic technologists to share information that was being developed in the laboratories, and to create continuing education opportunities. Now, access to information isn’t hard thanks to the Internet. Technologists interested in troubleshooting or information related to their field have a world of information at their fingertips.

As the organization evolved, so did The Journal of the Association

of Genetic Technologists. The journal began as a few mimeographed pages that was mostly made up of case studies, membership news, and troubleshooting and technique-related materials. As the organization began to increasingly focus on certification, licensure, government-related activities, salary equality, and professional development, the journal grew as well.

Because it has always been the most tangible sign of membership, it has tended to be a reflection of the organization. For a while it was largely a peer-reviewed technical journal. As such, it’s always had some difficulties in competing with the bigger journals, such as Journal of Human Genetics, Human Genetics, American Journal of Human Genetics, Journal of Medical Genetics, Cancer Genetics and Cytogenetics, etc. Which is one of the reasons why, when I took over as editor in 2000, I pushed it toward being a mix of peerreview technical journal and trade journal, with a combination of technical articles and business and continuing education-related materials.

If there’s a point to this column, it’s to get you, as members and readers, to think about what this organization is for you—and to think very hard about what you want it to be. If it’s a way to go to the annual meeting at a lower price, well, okay, that’s fine. If it’s because of continuing education opportunities, that’s good. If it’s because you think having an organization to lobby government agencies, licensure and certification boards on your behalf is important, that’s good.

Let us know what’s important to you. Drop an email to me. Or even better, drop an email to the president or other members of the executive board—let us know how we’re doing, what you think could be done better, what you would like to see.

And, of course, one of the ways to have an impact on the organization is to not only join, but volunteer, get involved.

Run for office, volunteer. There’s quite a bit going on with the organization, and there are plenty of committees that could use people to participate.

And if it is important to you, then I also encourage you to tell your peers they should join as well—it’s a cliché, but it’s true, there is strength in numbers.

Cheers, Mark Terry, Editor

AGT Website: www.AGT-info.org Member’s Only area – User Name: First initial, Last initial and AGT ID# (Ex. CR12345) Password: genetics

The Journal of the Association of Genetic Technologists 42 (4) 2016

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Case Study

A New Rhesus Macaque Karyotype Based on Human-rhesus Synteny Nichole M. Owen1, Helen J. Lawce2, and Susan B. Olson1,2 of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239 2Knight Diagnostic Laboratories, Cytogenetics Laboratory, Oregon Health & Science University, Portland, OR 97239

1Department

Abstract Rhesus macaque (Macaca mulatta), because of their similarity to humans, are often used to study complex neurobiology and anatomy, cardiovascular disease, and in vaccine development. While the rhesus genome is studied on its own by primatologists, the grand majority of rhesus macaque research is done with the intention of extrapolating the findings to human diseases and traits. As such, it makes sense that the rhesus genome and karyotype be arranged based on homology to human chromosomes in an effort to ease the comparisons between the two, and aide in interpreting data generated using rhesus macaque model systems. Various approaches have been utilized, including linkage analyses using radiation hybrid markers and human microsatellite loci, and next generation sequencing, to create a comprehensive rhesus genome. Here, we present for the first time, the rhesus macaque karyotype adjusted and renumbered to reflect human homology, and to complement the newly completed sequencing data.

Introduction

with Wright’s stain. Metaphases were imaged using brightfield microscopy and analyzed using Cytovision software.

Rhesus macaque (Macaca mulatta) is the most common nonhuman primate model used in biomedical research today, informing a plethora of investigations from immunology to evolutionary biology.

Because of their similarity to humans, rhesus models have been used to study complex neurobiology and anatomy, cardiovascular disease, and in vaccine development, including using the highly similar Simian immunodeficiency virus (SIV) to create a promising vaccine for HIV. In addition, genetic linkage analyses are common in rhesus, requiring both a detailed understanding of the rhesus genome and, importantly, how it relates to the human genome. In order to both accurately interpret information about human disease models, and understand human karyotype and genome evolution, it is essential to not only map the rhesus genome, but also to understand how their genome relates to the human genome.

Initial linkage analyses using radiation hybrid markers and human microsatellite loci were used to develop detailed maps of the rhesus genome in relation to the human genome (Murphy et al., 2005; Rogers et al., 2005). These allowed for a detailed understanding of what appear, via karyotype analysis, to be large regions of homology that sometimes encompass entire chromosomes. Later, with the advent of next generation sequencing, full genome sequences of rhesus macaque were assembled and annotated. After assembling the most comprehensive rhesus genome, Zimin et al. suggested a renumbering of rhesus chromosomes based on human-rhesus synteny, rather than size, to enable easier interpretation from rhesus studies to humans (Zimin et al., 2014). Here, we present for the first time, the rhesus macaque karyotype adjusted and renumbered to reflect human homology, and to complement the newly completed sequencing data.

Results Karyotyping was completed as described and chromosomes initially identified using Murphy et al., 2005, Rogers et al., 2005, and manual curation of the literature. Reassignment of rhesus chromosomes was done using the numbering system proposed by Zimin et al., 2014, reflecting gross human-rhesus homology (Fig. 1). It is obvious looking at the rhesus karyotype that large regions of homology with human chromosomes exist. For instance, rhesus chromosomes 5 and 8 are largely identical to human chromosomes 5 and 8 and only contain minor submicroscopic differences (Murphy et al., 2005). Other chromosomes, such as chromosomes 1 and 6, are largely identical, except the human karyotype has evolved to contain inversions that rearrange dozens of megabases worth of genetic material. The most obvious difference is the fusion of chromosomes 2a and 2b in humans that has given rise to human chromosome 2. Additionally, the human chromosomes 7 and 21 fused after the divergence of rhesus and human from their ancestral karyotype. A fission event separated the rhesus chromosome 14 into human chromosomes 14 and 15. Finally, the rhesus chromosome 15 is a derived fusion of human chromosomes 20 and 22, (Müller and Wienberg, 2001). Given the overwhelming similarities between the genomes, we propose that the standard rhesus macaque karyotype should be modified to reflect the necessity of human-rhesus genetic and karyotypic comparisons.

Discussion Demand for rhesus cytogenetics is growing exponentially in research and core service laboratories. Due to their similarities to humans, rhesus models are often used in biomedical and infectious disease research, and require the same routine cell line authentication and karyotype analysis for cytogenetic abnormalities as human cell lines. While the rhesus genome is studied on its own by primatologists, the grand majority of rhesus macaque research is done with the intention of extrapolating the findings to human diseases and traits. As such, it makes sense that the

Methods Chromosome Analysis: Rhesus macaque iPSC cells were treated with colcemid (0.05µg/mL) for five hours to collect metaphases.

Cells were trypsinized, pelleted, and resuspended in a hypotonic solution (0.06 M KCl, 5% FBS) for 15 minutes prior to being fixed with 3:1 methanol:acetic acid. Slides were made and baked at 95°C for 20 minutes, cooled, trypsinized for 45 seconds and stained

The Journal of the Association of Genetic Technologists 42 (3) 2016

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Case Study A New Rhesus Macaque Karyotype Based on Human-rhesus Synteny

Figure 1. Normal G-banded karyotype of rhesus macaque, 42,XY.

Jr. A new rhesus macaque assembly and annotation for next-generation sequencing analyses. Biol Direct. 2014;9(1): 20.

rhesus genome and karyotype be arranged based on homology to human chromosomes in an effort to ease the comparisons between the two, and aide in interpreting data generated using rhesus macaque model systems. Therefore, we suggest that this karyotype be adopted as the standard karyotype for rhesus macaque in order to reflect homology and align with human and great ape accepted karyotypes.

Corresponding author: Susan B. Olson, PhD, Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239 (T): 503-494-5964 (F): 503-494-6104 (E): olsonsu@ohsu.edu

References Müller S, Wienberg J. “Bar-coding” primate chromosomes: molecular cytogenetic screening for the ancestral hominoid karyotype. Hum Genet.

2001;109: 85-94.

Murphy W, Agarwala R, Schaffer A, Stephens R, Smith C, Jr., Crumpler N, David VA, O’Brien SJ. A rhesus radiation hybrid map and comparative analysis with the human genome. Genomics. 2005;86(4): 383-95 Rogers J, Garcia R, Shelledy W, Kaplan J, Arya A, Johnson Z, Bergstrom M, Novakowski L, Nair P, Vinson A, Newman D, Heckman G, Cameron J. An initial genetic linkage map of the rhesus macaque (Macaca mulatta) genome using human microsatellite loci. Genomics. 2006;87(1): 30-8.

Zimin A, Cornish A, Maudhoo M, Gibbs R, Zhang X, Pandey S, Meehan DT, Wipfler K, Bosinger SE, Johnson ZP, Tharp GK, Marcais G, Roberts M, Ferguson B, Fox HS, Treangen T, Salzberg SL, Yorke JA, Norgren BR

The Journal of the Association of Genetic Technologists 42 (4) 2016

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Teaching Case Study

Acute Myeloid Leukemia with inv(16)(p13.1q22) Juli-Anne Gardner, MD1, Katherine Devitt, MD1 1. Department

of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington, VT

A 47-year-old man presented with fatigue, persistent flu-like symptoms and new onset gum bleeding. Laboratory studies were remarkable for leukocytosis with circulating blasts (white blood cells, 35,300/µL), anemia (hemoglobin, 6.5g/dL), and thrombocytopenia (platelets, 14,000/µL). A peripheral blood smear demonstrated an absolute monocytosis (4,950/µL) and 58% blasts with monocytic features (panel A). A bone marrow biopsy revealed a hypercellular marrow with 68% blasts with occasional auer rods (panel B) and a population of eosinophils with basophilic granules (panels C & D).

Karyotype analysis revealed a pericentric inversion of chromosome 16 (panel E, arrow) which was confirmed by fluorescence in situ hybridization (FISH) analysis with a CBFB break apart probe (panel F, arrow).

Acute myeloid leukemia (AML) with inv(16)(p13.1q22) accounts for 5-8% of all cases of AML and shows monocytic and granulocytic differentiation and a characteristically abnormal eosinophil component in the bone marrow. AML with inv(16)(p13.1q22) is associated with a good prognosis in the absence of a KIT mutation.

Corresponding author: Juli-Anne Gardner, MD, Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington, VT 05401 (T): 802-487-2700 (F): 802-847-3987 (E): Juli-Anne.Gardner@uvmhealth.org

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Case Study

Ring Chromosome 7: A Rare Structural Abnormality in Acute Myeloid Leukemia (AML) Kristie Q. Liu1 and Carlos A. Tirado1 1Department of Pathology & Laboratory Medicine, UCLA, Los Angeles, CA 90024

Abstract Ring chromosomes, often leading to partial deletions, are found in about 2% of cases of acute myeloid leukemia (AML) and are typically associated with a poor prognosis. Herein, we present the case of a 62-year-old female who showed markedly hypercellular marrow with sheets of myeloblasts, monoblasts, and promonocytes, confirmed by flow cytometry and consistent with acute myelomonocytic leukemia.

Cytogenetic analysis revealed an apparent monosomy 7 and a ring chromosome in all 20 metaphases analyzed. Concurrent interphase and metaphase FISH studies revealed centromere 7 and 7q31 signals on this ring chromosome. The karyotype was then characterized as: 46,XX,r(7).ishr(7)(p13q32)(CEP7+,D7S486+)[20]. Despite the poor prognostic indication, follow-up cytogenetic studies after treatment revealed a normal karyotype. According to the Mitelman Database, 35 other cases of AML with r(7) have been reported. Analysis of these cases demonstrated that r(7) was a sole abnormality in 20%, a primary abnormality in 14%, and in the context of a complex karyotype in 66%. The most common concomitant abnormality, seen in 26% of these cases, was 5q-, though a large variety of other concurrent abnormalities were reported at lower frequencies. The most common r(7) breakpoints were r(7)(p22q22) and r(7)(p11q11), occurring in 20% and 13% of the cases that specified breakpoints, respectively. This case study and analysis of previously reported cases demonstrates the diversity of cytogenetic contexts in which r(7) can occur in AML and underscores the importance of FISH in the characterization of this abnormality. Further investigation of the role of r(7) in AML and other hematological malignancies is warranted in order to properly characterize it and concomitant abnormalities to elucidate its clinical implications.

Introduction

normochromic anemia with oval macrocytes and thrombocytopenia.

Initially, the patient’s karyotype had an apparent monosomy 7 and a marker chromosome, but this marker chromosome was later characterized as ring chromosome 7 after concurrent FISH studies. After undergoing chemotherapy, the patient had a normal karyotype in October 2015. At this point, the AML comprised 2-3% of marrow as confirmed by immunohistochemistry. The bone marrow was 70% hypercellular, but demonstrated multilineage maturation with erythroid preponderance. Flow cytometry demonstrated 2.7% blasts and an abnormal monocytic population with aberrant expression of CD56. Peripheral smears revealed no circulating blasts.

Acquired ring chromosome abnormalities have been reported in a number of solid tumors, but they are rare in hematological malignancies and are found in only 2% of cases of acute myeloid leukemia (AML). Ring chromosomes are also associated with a poor prognosis (Mohamed et al., 2013). Complete or partial deletion of chromosome 7 has been found in cases of acute myeloid leukemia, both de novo and secondary to exposure to chemicals. Since ring abnormalities can develop when breaks in the chromosome occur with fusion of the ends, they are closely associated with deletions of the associated chromosome. A ring chromosome also may not divide properly, often resulting in loss of the entire chromosome, explaining how in many of the cases examined there was also a deletion of r(7) or deletion of chromosome 7 altogether.

Herein, we present the case of a 62-year-old female diagnosed with AML. Conventional cytogenetic analysis revealed an apparent monosomy 7 and a marker chromosome in all of the 20 metaphases analyzed. Concurrent interphase and metaphase fluorescence in situ hybridization (FISH) studies revealed centromere 7 and 7q31 signals on the marker chromosome, which characterized it as a ring chromosome 7, conveyed as r(7)(p13q32). After undergoing treatment, the patient had a normal karyotype. This case will also be analyzed in the context of 35 other cases of r(7) in AML, all of which were taken from the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer.

Material and Methods A. Conventional Cytogenetics Cytogenetic studies were conducted on bone marrow samples using the conventional cytogenetic protocol, and the karyotypes were reported using the ISCN nomenclature (Shaffer et al., 2013).

B. FISH FISH was performed on bone marrow samples with the Vysis D7S486/Vysis CEP 7 (D7Z1) FISH Probe Kit in addition to the AML panel, which includes the Vysis LSI AML1/ETO Dual Color, Dual Fusion Translocation Probe, the Vysis LSI PML/RARA Dual Color Translocation Probe Kit, the Vysis LSI BCR/ABL ES Dual Color Translocation, the Vysis LSI MLL Dual Color, Break Apart Rearrangement Probe Kit, the Vysis LSI CBFB Break Apart Rearrangement Probe Kit, and the EVI1 Tri-Color, Break Apart LPH 036. Analyses were performed on cells in interphase as well as previously G-banded metaphases.

Clinical Presentation The patient is a 62-year-old female diagnosed with acute myelomonocytic leukemia. In June 2015, the patient’s AML comprised 90% of bone marrow and was confirmed by flow cytometry. This patient’s hypercellular bone marrow also had distinctly reduced multilineage maturation. Peripheral smears revealed circulating blasts with 84% promonocytes and

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Case Study Ring Chromosome 7: A Rare Structural Abnormality in Acute Myeloid Leukemia (AML)

RESULTS

or partial deletion of chromosome 7 is associated with a poor prognosis, especially when there are deletions at the long arm of chromosome 7 (7q-), and has been found both de novo and after exposure to chemicals. Consequently, ring chromosome 7 is also associated with a poor prognosis in AML. These chromosome 7 abnormalities have a negative prognosis because they reveal a high risk of progression to overt leukemia and are usually indicative of a poor response to chemotherapy. The FISH results indicated that 5.3% of the cells were monosomy 7, which could support the idea that monosomy 7 not only can occur from a single step, as in nondisjunction, but also may be the result of a series of consecutive events involving ring chromosome 7 (Sessarego et al., 1998).

Of note are the implications of monosomy 7 in the context of AML. De novo monosomy 7 occurs in about 10% of adult

A. Cytogenetics At first, cytogenetic analyses revealed an abnormal female karyotype with an apparent monosomy 7 and a marker chromosome. However, after concurrent interphase and metaphase FISH studies, the marker chromosome was found to contain chromosome 7 material in all 20 of the metaphase cells examined. The karyotype is described as 46,XX,r(7).ish r(7)(p13q32)(CEP 7+,D7S486+)[20].

Figure 1. The karyotype revealed a ring chromosome 7 abnormality, originally characterized as a marker chromosome before metaphase FISH studies.

B. FISH FISH studies using the Vysis D7S486/Vysis CEP 7 (D7Z1) FISH Probe Kit revealed loss of chromosome 7-specific signals in 5.3% (16/300) of the nuclei analyzed, which is suggestive of monosomy 7. These results are described as nuc. ish(D7Z1,D7S486)x1[16/300]. FISH studies on previously G-banded metaphases revealed the signal for the centromere of chromosome 7 and an intact 7q31 signal on the marker chromosome in all of the metaphases examined. These results characterized the marker chromosome observed in the conventional cytogenetic analysis as ring chromosome 7.

All of the other probes detected no aberrations in the nuclei examined.

Discussion Looking at the results of cytogenetics, the marker chromosomes from the conventional cytogenetic analysis are characterized as ring chromosome 7 using FISH. In the context of the FISH results, ring chromosome 7 occurred in 284 out of 300 cells analyzed, indicated by a normal signal pattern of two red and two green signals. Metaphase FISH indicated that one set of these signals appeared on the marker chromosome, confirming that it is ring chromosome 7. The close relationship between ring chromosome 7 and monosomy 7 is evident because FISH results indicated monosomy 7 in 16 out of 300 cells analyzed, or 5.3%. Complete

Figure 2. The top figure is the metaphase FISH results of chromosome 7 signals on the previously characterized marker chromosome, allowing the characterization of this marker chromosome to change to that of ring chromosome 7. The bottom figure shows the same results with labels and a different contrast.

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Case Study Ring Chromosome 7: A Rare Structural Abnormality in Acute Myeloid Leukemia (AML) Table 1: Karyotypes and other information about the cases from the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer on r(7) in AML.

Refernce

Age, Sex

Year

FAB type

Karyotype

1

Bargesteh van N/A, M Waalwijk van DoornKhosrovani et al.

2003

NOS

46,XY,t(3;3)(q2?3;q26),−7,t(10;20)(p13;q11),+r.ishr(7) (cen7+)[5]/46,idem,i(21)(q10)[8]/46,idem,ins(12;?)(q1?5;?)

[2]/46,XY[4]

2

Blink et al.

2, F

2012

NOS

47,XX,r(7)(p22q22).ish r(7)(WCP7 + ,D7Z1+,D7S486-,164D18,3K23-),+21c

3

Chang et al.

2, F

2005

M7

47,XX,r(7),+21c

4

Chang et al.

1, M

2005

M7

47,XX,+i(1)(q10)/48-49,XX,r(7),der(8)t(8;17)(q12;q11),-17,+34mars[cp]/47,XX,der (7)t(7;8)(p22;q12),t(7;17)(q36;q11),-8,17,+3mars

5

Chessells et al.

0, F

2002

M5

47,XX,+i(1)(q10)/48-49,XX,r(7),der(8)t(8;17)(q12;q11),-17,+34mars[cp]/47,XX,der (7)t(7;8)(p22;q12),t(7;17)(q36;q11),-8,17,+3mars

6

Dicker et al.

N/A, F

2007

M0

46,XX,r(7)(p13q11.2)[19],46,XX[1]

7

Dicker et al.

N/A, F

2007

M0

46,XX,del(5)(q13q31),r(7)(p11q11),del(18)(q11)[20]

8

Forrest et al.

57, M

1998

M3

46,XY,add(1)(q21),t(1;4)(p22;q31),add(5)(q33),r(7) (p12q36),del(11)(q21q23), t(15;17)(q22;q21)[19]

9

GFCH

68, M

1988

NOS

46,XY,r(7) and 45,XY,-7

10

Gibbons et al.

73, M

1994

M6

44,XY,r(3),-5,-6,r(7),add(10)(p1?),t(11;22)(q13;q13),add(16) (q24) and 43,XY,r(3),-5,-6,-7,add(10),t(11;22),add(16)amlas

11

Heim et al.

1, M

1990

M2

47,XY,+21,r(7)/47,XY,+21

12

Kobayashi et al.

2, F

2005

M7

47,XX,r(7),+21c and 47,XX,+21c[1]/44,idem,-4,r(7),12,add(12)(q24),-17,-18,+mar[1] and 47,XX,r(7),add(17) (p11),+21c[5]/46,XX,der(4;11)(q10;q10),add(7)(q22),add(17) (p11),+21c[11]/46,XX,-7,-14,add(17)(p11),+21c,+mar[4]

13

Lampert et al.

7, M

1991

M1

46,XY,r(7)(p22q22)

14

Lessard et al.

51, F

2007

NOS

44,XX,t(2;7)(q33;q22),der(4)t(4;17)(p15;?) t(15;17)(?;?),der(5) t(5;20)(q21;?),r(7), der(12)t(12;17)p13;?),-15,-17[3]/44,sl, del(13)(q13q14)[2]/44,sdl1, +add(17)(p13),-19[cp15]

15

Link et al.

42, F

2011

NOS

46,XX,der(3)ins(3;4)(q26;q13q31)ins(3;3)(q26;q27q12) t(3;4)(q26;p12),der (3)ins(3;3)(q26;q27q12),der(4)ins(3;4) (q26;q13q31)t(3;4)(q26;p12),der(5)del (5)(q13q34)t(5;12) (q34;p12),r(7)(p11q11),der(12)t(5;12)(q34;p12)/45,idem,-r (7)

16

Lugthart et al.

N/A, M

2010

NOS

48,XY,der(1)t(1;3)(q43;p24),der(2)t(2;3)(q32;p?)t(3;8) (p?;q13),der(3;8) (q10;p10),-5,+der(6)t(6;15)(q23;q1415),t(6;15),r(7),+8,add(12)(p11),add (17)(p11),add(17) (q21),+r,+mar/49,idem,+8

17

Mackinnon & Campbell

N/A, F

2007

NOS

46,XX,r(7),t(9;22)(q34;q11.2)[10]/45,XX,der(7)t(7;20) (p11;q13)t(20;20)(q11;p11),t (9;22),-20[8]/46,XX,del(7) (p11),t(9;22)/46,XX,del(5)(q?33q35),t(9;22)[2]

18

Martinez-Ramirez et al.

65, F

2005

NOS

47,X,der(X)t(X;?18),del(5)(q13q33),t(5;11;12) (q?;q?;p?),r(7),del(18)(q?), +mar

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Case Study Ring Chromosome 7: A Rare Structural Abnormality in Acute Myeloid Leukemia (AML)

19

Mohamed et al.

69, M

2013

NOS

46,XY,r(7)(p13q21)[13]/46,XY[3]

20

Nadal et al.

51, F

2008

M2

46,XX,r(7)(p?q?)[10]/45,sl,-r(7)[4]/44,sdl1,del(2)(q32q35),5,add(8)(p11),add(19)(p11 or q11)[6] and 46,XX,r(7),t(17;21) (q11.1;q22)[28]/46,XX[2]

21

Olopade et al.

55, M

1992

M6

45,X,-Y,-16,-18,-18,-22,del(4)(q13q31),del(5)(q22q31),r(7) (p2?q3?1),t(17;?(p11;?),t(17;?)(p11;?,+mar1,+mar2,+mar3,+m ar4(8%)/43,X,-Y,same as clone 1,-13,-21(62%)/44,X,-Y,-13,-16,18,-18,-21,-22,del(4),del(5),r(7),t(17;?),t(17;?),+mar1,+mar2,+ mar3,+mar5,+mar6 (15%)

22

Pettenati et al.

2, M

1989

M2

47,XY,r(7),t(8;16)(q22;q24),+21c

23

Preiss et al.

63, F

2010

M1

45,XX,add(1)(p36),del(5)(q13q33),r(7),del(12)(q15q22),13/46,idem,-r(7),add (11)(p15),+2mar[2]

24

Radtke et al.

80, F

2009

M7

49,XX,del(5)(p13p14),der(5)t(5;9)(q11.2;q13),r(7) (p22q11),del(9)(q34),+18,+19, +21[5]/46,XX[15]

25

Raimondi et al.

N/A, F

1999

NOS

46,XX,t(12;21)(q12;q21)/46,XX,dup(1)(q21q42),r(7) (p22q31),add(13)(q34),der (21)t(7;21)(q32;q22)

26

Raimondi et al.

N/A, M

1999

NOS

46,XY,del(7)(q11)/46,idem,del(1)(q21),der(4)t(1;4) (q21;q21),der(6)t(6;6) (p23;q15)/45,XY,ins(2) (p23q33q37),t(3;8)(p23;p23),r(7)(p15q35),-13

27

Sato et al.

60, M

1995

M2

46,XY,del(7)(q21q36),der(12)t(3;12)(p21;p13)[4]/46,XY,r(7) (p22q34),-12,+mar[5]/46,XY[13]

28

Schmid et al.

41, M

2012

NOS

46,XY,t(2;20)(q31;q13),der(5)t(5;5)(q33;p14),der(5)inv(5) (p14q22)del(5) (p14),r(7),t(12;16)(p13;q12)[15]

29

Sessarego et al.

N/A, M

1998

NOS

46,XY,r(7) for FISH and 46,XY[5]/46,XY,-7,+r[15] for Q-banded metaphases

30

Tang et al.

85, M

2015

M4

45-47,XY,der(2)ins(2;11)(p13;q22q23),r(7),add(11) (q24),r(11)x2,-15,-17,-18, +der(?)ins(?;11)(?;q22q23),+25mar[cp13]/46,XY[7]

31

Wawrzyniak et al.

62, M

2013

NOS

45,XY,del(5)(q?22q?33),r(7),t(8;12)(p21;p13),-11,der(16) t(11;16)(q?;p13)[18]/44, XY,del(5)(q?22q?33),-7,t(8;12) (p21;p13),-11,der(16)t(11;16)(q?;p13)[5]/46,XY[3]

32

Wawrzyniak et al.

69, F

2013

NOS

44,XX,der(3)t(3:?)(p21;?),del(5)(q13q31),-6,der(7)t(7;?) (q11;?),dic(8;17)(p21;q11),der(11)t (11;17)(p15;q?21),19,der(20)t(20;?)(p12;?)t(6;20)(q13;q13),+mar[14]/43,XX,3,del (5)(q13q31),r(7),der(11)t(11;17)(p15;q?21),der(11) t(11;?)(q25;?),-17,-18[5]/46,XX[6]

33

Wieser et al.

58, F

2000

M4

46,XX,inv(3)(q21q26),r(7)[10]

34

Zhao et al.

N/A, F

1993

NOS

46,XX,r(7)(p?)/47,XX,+mar

35

van den HeuvelEibrink et al.

80, M

2001

M7

46,XY,r(7)

in distal and proximal breakpoints also suggests that chromosome 7 deletions may be important in leukemogenesis because of the loss of function of a tumor-suppressor gene within the deleted segment, but further studies are needed to pinpoint the region where this gene is located. Generally, however, existing evidence suggests that loss of chromosome 7 material is not an initiating event in AML,

AML and 5-7% of pediatric AML. Monosomy 7 is also the most common cytogenetic abnormality in leukemic cells with therapyrelated AML, but it rarely occurs as a sole abnormality. Cytogenetic studies of 44 patients with 7q deletions at the University of Chicago also characterized 7q22 and 7q32-34 as possible “critical regions� in the development of myeloid leukemia. The variability

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Case Study Ring Chromosome 7: A Rare Structural Abnormality in Acute Myeloid Leukemia (AML)

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since it has been found in so many settings in which the condition has already been well-established (Luna-Fineman et al., 1995). This information about loss of chromosome 7 material could also apply to r(7), since it often involves loss of material and is associated with monosomy 7. Here, the region of interest will be 7q31.

A query of the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer revealed 35 cases of r(7) in AML, none of which had r(7) as a secondary abnormality. Analysis of these cases showed that r(7) was a sole abnormality in 20% of the cases and a primary abnormality in 14% of the cases, and 66% of the cases were within a complex karyotype. The most common abnormality to occur in conjunction with r(7) was loss of material on 5q due to deletion or unbalanced rearrangements, which was seen in 26% of the cases. Other common abnormalities to occur with r(7) were constitutional trisomy 21 (20% of cases), monosomy 7 (14% of cases), and monosomy 17 (14% of cases), though a variety of other concurrent abnormalities were reported at much lower frequencies. Other notable abnormalities were monosomy 18 (9%), loss of chromosome 7 material (9%), monosomy 12 (6%), monosomy 5 (6%), monosomy 15 (6%), monosomy 19 (6%), and unbalanced rearrangements involving chromosome 17 (6%). In r(7), 7q31 was also the critical deleted region for 20% of the cases.

The most common ring chromosome 7 abnormality was r(7) (p22q22), occurring in 20% of the cases that specified breakpoints, and the second most common was r(7)(p11q11), occurring in 13% of the cases that specified breakpoints. Other breakpoints were r(7)(p12q36), r(7)(p22q31), r(7)(p15q35), and more (Mitelman et al., 2014). The case presented here is r(7)(p13q32), and it does not have 7q31 as a deleted region. This demonstrates the diversity of cytogenetic contexts in which r(7) can occur in AML and underscores the importance of pairing FISH with conventional cytogenetic analysis in characterizing this abnormality. Further research into the role of r(7) in AML is needed to establish its relationship with concomitant abnormalities and to explain its clinical implications.

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Wawrzyniak E, Wierzbowska A, Kotkowska A, Siemieniuk-Rys M, Robak T, Knopinska-Posluszny W, Klonowska A, Iliszko M, Woroniecka R, Pienkowska-Grela B, Ejduk A, Wach M, Duszenko E, Jaskowiec A,

Jakobczyk M, Mucha B, Kosny J, Pluta A, Grosicki S, Holowiecki J, Haus O. Different prognosis of acute myeloid leukemia harboring monosomal karyotype with total or partial monosomies determined by FISH: retrospective PALG study. Leuk Res. 2013 Mar;37(3): 293-9.

Wieser R, Volz A, Schnittger S, Jäger U, Grüner H, Meran JG, Wimmer K, Ziegler A, Fonatsch C. Mapping of leukaemia-associated breakpoints in chromosome band 3q21 using a newly established PAC contig. Br J Haematol. 2000 Aug;110(2): 343-50..

Zhao L, van Oort J, Cork A, Liang JC. Comparison between interphase and metaphase cytogenetics in detecting chromosome 7 defects in hematological neoplasias. Am J Hematol. 1993 Jul;43(3): 205-11.

Corresponding author: Carlos A. Tirado, Ph,D., FAMCG (carlostirado@hotmail.com)

The Journal of the Association of Genetic Technologists 42 (3) 2016

186

Molecular Diagnostics

Column Editor: Michelle Mah, MLT, MB(ASCP)CM

A Brief Reflection

By Michelle Mah & Anna Haasen For the last issue in 2015, I wrote about the ushering of clinical genome diagnostics into the field of molecular pathology. Although whole genome sequencing is still uncommon ground in most diagnostic labs, large targeted gene panels that encompass thousands of sequence targets have become increasingly practical to integrate into routine.

The manual part of technologist workflow remains for the large part unchanged. They produce next-generation sequencing (NSG) libraries which are enriched and subsequently amplified target sequences that will undergo massively parallel sequencing. On the other hand, the computer programs and commercial software used for sequencing and variant analysis has improved. The development and streamlining of the post-sequencing workflow, such as employing the most appropriate programs for sequence quality filtering and variant interpretation, has increased productivity. The part of the week devoted to the use of spreadsheets and multiple software programs (sometimes for the same purpose!) has been thankfully reduced.

For the alignment of genomic sequences and processing of those sequences (also called sequencing reads), the bioinformatics team in our lab (composed of research associates with expertise in computational biology) has assembled a customized analysis pipeline to intake raw sequence files and output variant call files called VCFs. VCFs that contain high quality variants are extremely important for downstream reporting. For example, a technologist would further evaluate and prioritize variants from the VCF for formal interpretation using specialized variant assessment and organization platforms. If I had to make a direct comparison, I think as labs accumulate more experience in running NGS assays, looking at a VCF should be as informational as looking for targeted bands in a PCR agarose gel.

In the example of the NanoString nCounter expression assay the lab is testing, the use of probes attached to fluorescently labeled molecular barcodes (made up of short strings of nucleotides) are hybridized to targeted sequences of interest. After the hybridization, the probe-target complexes are immobilized onto the nCounter cartridge and the individual fluorescent barcodes are counted by the nCounter digital analyzer. The output is number of counts for each target of interest per sample. Normalization of these counts to positive controls evaluates differential gene expression. When assessing results at the nanoscale, sensitivity and precision is remarkable, which endorses nanoscale platforms at the forefront of personalized medicine.

The most recent news about nanotechnology used in sequencing is from the company Oxford Nanopore Technologies (Oxford, UK). They have created what has been referred to as the thirdgeneration sequencers (the generation after NGS), where a single DNA or RNA molecule is threaded through a protein nanopore that resembles a cross membrane protein channel. The change in nucleotide sequences alters the normal current that flows through the nanopore and is measured by a nanopore device that comes in two available models. They are the pocket-sized MinION, which measures up to 512 nanopore channels, and the PromethION, which is the benchtop version that can measure over a million nanopore channels. The portable MinION, which is four inches long and oneinch wide, makes the notion of a DNA sequencer in every pocket a very real possibility.

Towards NGS Standardization as Technology Matures and Labs Gain More Experience I recently attended the Toronto leg of the Ion World 2016 hosted

by ThermoFisher Scientific, and learned a little more about its Ion S5 and S5 XL sequencers. I was excited to learn about the company’s partnership with The Ontario Institute for Cancer Research (OICR) in facilitating a collaborative partnership between leading healthcare institutions in Ontario with the goal to provide better breast cancer care in the province. Participating labs will use the 143 targeted cancer gene panel on the Ion S5 XL sequencer. This is the same gene panel used in the National Cancer Institute-Molecular for Therapy Choice Trial (NCI-MATCH) offered in many clinical sites in the U.S. that started last August.

One of the expectations is to work towards the possibility of standardizing NGS workflows from sample processing to variant calling. The construction of a shared database of knowledge and expertise is scalable and can certainly extend to other forms of cancer.

Nanotechnology in Molecular Diagnostics Most of my column content has focused on NGS in the molecular lab. When our lab recently acquired a new non-sequencer called the NanoString nCounter (NanoString Technologies, Inc., Seattle, WA), my interest in nanotechnologies was piqued. Nanotechnology with applications in biology has been around for over a decade. As the name implies, it takes molecular diagnostics to the nanoscale. Nanois a unit of the metric system and it is defined by a factor of one billionth, that is 0.000 000 001. Wikipedia defines one nanometer as the length of three gold atoms!

In everyday molecular genetics and molecular cytogenetics, we frequently work with micro and nano amounts of DNA and RNA. There are NGS assays that use as low as 10 nanograms of DNA per sample. To provide some prospective on how minuscule this amount is, the amount of nuclear DNA in one human diploid cell is about 6 picograms, which is equal to 0.006 nanograms, so 10 nanograms is approximately 1,500 cells. The use of nanotechnology in molecular diagnostics is the conversion of single strings of nucleotides directly into electronic signatures that can be measured by different analyzers.

Amplification of targeted sequences is not required, so the upfront work is significantly less and faster.

Sources Biotechnology Focus. Aug 2016. New retrospective study aims to identify mutations to better diagnose breast cancer. http://biotechnologyfocus. ca/new-retrospective-study-aims-identify-mutations-better-diagnose-breastcancer/ Cheng L. Molecular Genetic Pathology. Springer Publishing; 2013.

Hovelson DH Hovelson DH, McDaniel AS, Cani AK, Johnson B, Rhodes K, Williams PD, Bandla S, Bien G, Choppa P, Hyland F, Gottimukkala R, Liu G, Manivannan M, Schageman J, Ballesteros-Villagrana E, Grasso

The Journal of the Association of Genetic Technologists 42 (4) 2016

187

Molecular Diagnostics

Column Editor: Michelle Mah, MLT, MB(ASCP)CM

A Brief Reflection

CS, Quist MJ, Yadati V, Amin A, Siddiqui J, Betz BL, Knudsen KE, Cooney KA, Feng FY, Roh MH, Nelson PS, Liu CJ, Beer DG, Wyngaard P, Chinnaiyan AM, Sadis S, Rhodes DR, Tomlins SA. Development and validation of a scalable next-generation sequencing system for assessing relevant somatic variants in solid tumours. Neoplasia. 2015;17(4): 385-399.

Miglani GS. Developmental Genetics. IK International Publishing House; 2013.

NanoString Technologies company website: http://www.nanostring.com/ elements/tagsets Oxford Nanopore Technologies company website: https://nanoporetech.com/ how-it-works Yong E. April 2016. A DNA Sequencer in Every Pocket. The Atlantic.

Available on the World Wide Web: http://www.theatlantic.com/science/ archive/2016/04/this-technology-will-allow-anyone-to-sequence-dnaanywhere/479625/

By Michelle Mah, MLT, MB(ASCP)CM

The Journal of the Association of Genetic Technologists 42 (3) 2016

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The Journal of the Association of Genetic Technologists 42 (4) 2016

189

Profiles and Perspectives

Column Editor: Hon Fong L. Mark, PhD, MBA, FACMG

Claudia Wiersch, B.S. Interviewed by Dr. Hon Fong L. Mark

Claudia Wiersch, B.S.

Claudia Wiersch was once a happy stay-at-home mom. She thought that having a family would be enough for her. She soon found that she wanted more engagement in the bigger world. Her father was a scientist. She thinks she inherited his curiosity and analytical mind. The first time that I met Claudia was at Brown University/RI Hospital. I needed additional technical help for chromosome analysis.

CW: I still love my family, but I also love the experiences I have had in science. I started out in clinical cytogenetics, but found the balance of home in Connecticut, work in Providence and a long commute hard to balance. I went to work at a biotech company performing gold particle and DNA bombardment experiments to create transgenic corn. Very little was in the news at that time about genetically modified organisms (GMO) and the work was a blast, literally.

techniques are taught in the program as well, which is fantastic.

HFLM: Who do you consider your most important mentors in genetics at the various levels?

CW:

HFLM: After that she was at a pharmaceutical company, using her cytogenetic expertise in the risk assessment of developing drugs.

Company restructuring and outsourcing eliminated that job. She worked under a grant at an aquarium, then at a manufacturing facility that made ointments and creams in quality assurance, performing annual product reviews and releasing product. How she missed cytogenetics.

There are so many talented people that I have had the pleasure to meet and work with, it’s hard to say‌

HFLM: What do you consider to be the most interesting or most important project that you have ever done? Please elaborate.

CW:

CW: Luckily, a full circle has found her about to embark on another adventure back into a cytogenetics laboratory, this time with a world of experience.

My career in clinical cytogenetics was interrupted by family obligations, but I never lost my love for chromosomes. I worked in a genetic toxicology laboratory at a pharmaceutical company, looking for effects that drug candidates may have on chromosomes from healthy donors. Many labs are using mouse lymphoma cells now for drug safety studies, but we used human lymphocytes.

HFLM: As a bright young woman, obviously there were many options open to you when you decided to go to college.

What was the main reason that you decided to attend The University of Connecticut School of Allied Health (Mark, 1999; Mark, 2000)?

HFLM: You did grow to love flow cytometry as well. You worked for a while at the Mystic Aquarium in Connecticut performing immunophenotyping on wild and captured whales and dolphins, supporting stress studies on these animals for Dr. Trac Romano.

CW:

I had two wonderful science professors, Professor Copeland and Professor Kirkpatrick, at what was then Mohegan Community College, who encouraged me to explore the sciences. Professor Kirkpatrick mentioned this field of cytogenetics, and I was instantly interested and applied to the University of Connecticut program.

CW:

HFLM: Why did you choose to enter this specialized field of genetics?

CW:

CW:

HFLM: What do you think is the most urgent scientific question to be answered in our field in the coming years?

Really, I fell in love with chromosomes. I loved looking at them under the microscope and when I realized the information that could be gleaned from their banding patterns, I know I found something I wanted to study.

How is basic science going to thrive in our current environment? There is so much pressure to produce something practical, which is important, but sometimes the practical doesn't arrive until some basic questions are answered.

HFLM: What do you think is the most pressing nonsciencerelated problem facing molecular geneticists today?

HFLM: Please describe your training.

CW:

Working in an environment where animals other than humans are a top priority was a real eye-opening and humbling experience.

CW:

The University of Connecticut has a wonderful Medical Laboratory Science Program. When I went, the specialty of cytogenetics encompassed the theoretical, the practical and the ethical facets of this discipline. It was all cytogenetics at the time I went, but now the molecular diagnostic

How do we scientists continue to engage the public about scientific matters, so people will love and support science through philanthropy, voting, and general understanding.

HFLM: In what direction do you see molecular genetics going in the next century?

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Profiles and Perspectives

Claudia Wiersch, B.S.

CW:

I think people are becoming more well versed in genetics, and I don’t see that change reversing.

HFLM: What advice would you give a young person today who has an interest in going into the field of molecular genetics?

CW:

Get into a good program with a strong clinical component.

Be interested and curious about everything you come across.

HFLM: If there is one thing that you can change about the genetics marketplace today, what would it be?

CW:

Educate and explain what the genomic tests are and how they can really help a cancer patient or an expectant parent.

HFLM: This column often ends with a saying or an important piece of advice. Before ending this very interesting interview, is there something you would like to share with our readers?

CW:

Care deeply about everything you do. Never stop learning or box yourself into a corner.

HFLM: If you can do it all over again, would you still be commuting?

CW:

I might have moved closer to a big city where the opportunities are greater. I have no regrets, and I am sure I went places that were right for me at the time. I believe in an unfolding universe.

HFLM: We wish you a safe flight as you begin another journey home.

References Mark HFL. Cytogenetics in the 1960s. J Assoc Genet Tech.

1999;26: 72-73.

Mark HFL. Medical Cytogenetics. New York: Marcel Dekker; 2000.

Hon Fong L. Mark, PhD, MBA, FACMG, Editor of the cytogenetics textbook, “Medical Cytogenetics,” is President of KRAM Corporation, a small consulting firm specializing in medical genetics, grant review and scientific review administration. Dr. Mark is a Clinical Cytogeneticist board-certified by the ABMG (1993), and was formerly Director of Cytogenetics and Clinical Professor at the Lifespan Academic Medical Center/Brown University in Providence, RI, Director of Human Genetics, RIDOH, also in Providence, RI, and Director of the Cytogenetics Department at Presbyterian Laboratory Services/Novant Health in Charlotte, N.C. She was recruited to the Boston University School of Medicine as Director of the Cytogenetics Laboratories (and Clinical Professor of Pathology and Laboratory Medicine) in 2004, a position from which she resigned in 2007. This column is dedicated to the technologists and laboratory directors in all the cytogenetics laboratories in the U.S. and throughout the world whom she had the good fortune of meeting through the years.

The Journal of the Association of Genetic Technologists 42 (4) 2016

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Brain Tickler

Brain Tickler Summary (see inside front cover)

Results: 46,XX,der(4)t(4;11)(p16.3;p15.4) Based upon microarray analysis, there is an approximately 3.81 Mb terminal deletion of 4p16.3, the Wolf-Hirschhorn syndrome (WHS) deletion region.

Fluorescence in situ hybridization (FISH) showed a deletion in the WHS region of chromosome 4.

There is also a 3.29 Mb gain of probe regions on chromosome 11p15.5 by microarray.

FISH with an 11p15.5 probe showed signal on both chromosomes 11 and on one chromosome 4 short arm.

Therefore there is a derivative chromosome 4, presumably from a parental translocation between chromosomes 4 and 11.

Genetic counselling was recommended.

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Continuing Education Opportunities

Column Editor: Sally J. Kochmar, MS, CG(ASCP)CM

Test Yourself #4, 2016 Readers of The Journal of the Association of Genetic Technologists are invited to participate in this “open book test” as an opportunity to earn Contact Hours. AGT offers 3 Contact Hours for this Test Yourself based on articles in Volume 42, Number 3, Third Quarter 2016 of the Journal.

Test Yourself is free to AGT members and $30 for non-members. To take this exam, send a copy of your completed Answer Sheet along with the completed Contact Hours Reporting Form to the AGT Education Committee Representative in your region. The list of representatives is on page 196 of this issue. Non-members should submit a check payable to AGT for $30 with their answer sheet. Entry material must be post-marked on or before March 1, 2017.

Passing score is 85% or 17 out of 20 questions answered correctly. Compiled by Doina Ciobanu and Sally Kochmar.

The following questions are from Fonseka L et al. JAK2 in the Diagnosis and Treatment of Lymphoid Malignancies: A Review of the Literature. J Assoc Genet Technol. 2016;42(3): 98-103.

6. It has been reported that a ___-___ fusion can occur in pediatric T-ALL, resulting in constitutive activation of tyrosine kinases.

1. In 2016, there will be an estimated ___ new cases of CLL in the United States.

I. II. III. IV.

a. 6,590 b. 1,896 c. 19,860 d. 18,960

The following questions are from Fonseka L et al. Telomerase in Acute Myeloid Leukemia: A Molecular Update on Diagnosis, Prognosis, and Treatment. J Assoc Technol. 2016;42(3): 105-110.

2. Mutations at the JAK2 locus are involved in: I. B-cell chronic lymphocytic leukemia II. Hodgkin’s lymphoma

7. All of the following are true except:

III. acute lymphoblastic leukemia

I.

AML is expected to cause about 10,460 deaths in the United States in 2016.

II. Patients diagnosed with AML have a 25.9% five-year survival rate.

III. A normal bone marrow sample contains about 20% myeloblasts.

IV. Early symptoms of AML include fever, fatigue and soreness.

IV. multiple myeloma a. b. c. d.

I, II and III I, III and IV I and II only all of the above

3. Type I JAK inhibitors attempt to bind to the kinase in its inactive form.

8. According to the American Cancer Society, translocations or inversions of chromosome 3 are an unfavorable prognosis in AML.

a. true b. false

I. true II. false

4. All of the following are correct, except: a. The JAK2 locus is on 9p24. b. Most mutations involving the JAK2 gene in lymphoid malignancies are translocations between JAK2 and other genes. c. The Janus kinase family includes JAK1, JAK2, JAK3 and TYK2. d. Patients with Ph-like ALL have a good prognosis.

9. Choose the correct statement: a. Human telomeres consist of TTAACCC repeats. b. DNA polymerase in standard DNA replication creates strands that are 500-2000 base pair shorter than the original strand. c. When telomere ends are reduced sufficiently, it triggers cellular senescence. d. Telomerase decreases telomere length.

5. According to this article, in a study of T-ALL, two JAK2 mutations were revealed to lead to constitutive JAK-STAT pathway activation. These mutations are: a. b. c. d.

BCR-ABL1 IKZF1-CDKN2A IKZF1-CDKN2B ETV6-JAK2

M9291and M9290 V617F and H574R H574R and R683G H574R and M9291 The Journal of the Association of Genetic Technologists 42 (4) 2016

193

Continuing Education Opportunities

Column Editor: Sally J. Kochmar, MS, CG(ASCP)CM

10. Which of the following is a “favorable” cytogenetic abnormality in AML? I. II. III. IV.

15. IQMH requirements include guidelines categorized into ___ tenets of quality management.

deletion 5 translocation (6;9) inversion 16 11q23 abnormalities

a. ten b. twelve c. eleven d. fifteen

11. Some novel therapies of AML are:

16. IQMH requirement VIII.1 MD104 includes descriptive requirements to determine NGS metrics such as depth of coverage, passing quality filters and alignment of sequences.

I. mesoindigo II. sodium metaarsenite III. sorafenib IV. developing LSC strategies a. b. c. d.

a. true b. false

I, II and IV I, II and III I and IV only All of the above

The following questions are from Mark HFL. Dr. Sheila Dobin. J Assoc Genet Technol. 2016; 42(3): 114-117.

17. Who introduced Dr. Dobin to cytogenetics? a. b. c. d.

The following questions are from Mah M. Training to Strive for Continuous Improvement. J Assoc Genet Technol. 2016;42(3): 112-113.

18. What is Dr. Dobin’s most urgent scientific question that should be answered in the near future?

12. IQMH requirements include guidelines for: I. equipment, reagents and supplies II. quality assurance III. laboratory information systems IV. safety a. b. c. d.

a. b. c. d.

I, II and IV II, III and IV I, II and III All of the above

knowledge about function of genes learning about losses seen on microarrays interpreting microarray results understanding meaning of gains seen on microarrays

19. Dr. Dobin did her postdoctoral fellowship at: a. b. c. d.

13. The Institute for Quality Management in Healthcare manages all of the following, except: a. b. c. d.

Dr. Howell Dr. Friedman Dr. Shaw Dr. Moore

Memorial Hospital in Temple, Texas UT Graduate School in Houston UT Southwestern Scott & White Memorial Hospital

20. All of the following are true, except:

Centre for Accreditation Centre for Quality Testing Centre for Proficiency Testing Centre for Education

a. Dr. Dobin went to Jones High School. b. Dr. Dobin credits Dr. Howell with saving her future career. c. Dr. Dobin always wanted to study and do research in genetics. d. Dr. Dobin started her PhD at the University of Texas Graduate School of Biomedical Sciences in Houston.

14. Choose the correct statement: a. IQMH evolved from the Quality Management ProgramLaboratory Services in 2012. b. QMS-LP was responsible for providing proficiency testing since the 1960s. c. The Institute for Quality Management in Healthcare is a for-profit corporation. d. Rebranding to IQMH has allowed the organization to gain a broader international presence.

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Continuing Education Opportunities

Column Editor: Sally J. Kochmar, MS, CG(ASCP)CM

Answer Sheet 1.____

7.____ 8.____ 9.____ 10.____ 11.____ 12.____

2.____ 3.____ 4.____ 5.____ 6.____

Answers to Test Yourself #3, 2016

Please Print Clearly 13.____ 14.____ 15.____ 16.____ 17.____ 18.____

19.____ 20.____

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Passing Score: (passing score is 21/24 or 87%) 7. c 13. d 8. d 14. a 9. a 15. b 10. b 16. d 11. c 17. d 12. d 18. a

b d a c c a

The Association of Genetic Technologists Name:

19.

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22.

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24.

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CEU REPORTING FORM

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MI

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(check appropriate box) Address

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___________________ Date

Continuing Education Opportunities 2015-2016 AGT Education Committee Regional Representatives If you have questions or experience difficulty locating your representative, please contact the AGT Education Director (see page 162 for address).

Great Lakes

Mountain States

Northern Pacific

(Illinois, Indiana, Michigan, Minnesota, Ohio, Wisconsin)

(Arizona, Colorado, Idaho, Montana, New Mexico, Utah, Wyoming)

(Alaska, Northern California, Oregon, Washington)

Audra Birri Cincinnati Children's Hospital Cytogenetics Laboratory TCHRF Room 1003 3333 Burnet Ave. Cincinnati, Ohio 45229 513-636-4474 513-636-4373 FAX Audra.Birri@cchmc.org

Great Plains (Arkansas, Iowa, Kansas, Missouri, Nebraska, North Dakota, Oklahoma, South Dakota) Julie Carstens Cytogenetics Laboratory Munroe-Meyer Institute 985440 Nebraska Medical Center Omaha, NE 68198-5440 402-559-4965 402-559-7248 FAX jcarsten@unmc.edu

Mid-Atlantic (Delaware, District of Columbia, Maryland, New Jersey, Pennsylvania, Virginia, West Virginia) Deborah Ketterer Pittsburgh Cytogenetics Laboratory Magee-Womens Hospital of UPMC 300 Halket St., Room 1229 Pittsburgh, PA 15213 412-641-6688 412-641-2255 FAX dmketterer@verizon.net

Uma Van Roosenbeek 574 W. Vekol Ct. Casa Grande, AZ 85122 520-509-1130 umaswati@gmail.com

New England (Connecticut, Maine, Massachusetts, New Hampshire, Rhode Island, Vermont) Gail Bromage DIANON Systems, Inc. Cytogenetics Laboratory 1 Forest Parkway Shelton, CT 06484 800-328-2666 203-380-4554 FAX gbromage@sbcglobal.net

New York State (New York) Laura Benz 4756 Black Warrior Road Truxton, NY 13158 607-842-6009 benzl@upstate.edu

Christine Donovan University of Washington Medical Center Cytogenetics Laboratory Box 356100 1959 NE Pacific Seattle, WA 98195 206-598-4489 206-598-2610 Fax chrisd19@u.washington.edu

Southeast (Alabama, Florida, Georgia, Kentucky, Louisiana, Mississippi, North Carolina, South Carolina, Tennessee) Joan Bishop Greenwood Genetics Center 106 Gregor Mendel Circle Greenwood, SC 29646 864-388-1719 864-941-8133 FAX jtbishop@ggc.org

Southern Pacific (Hawaii, Nevada, Southern California) Shree Merchant 26381 Silver Creek Dr. San Juan Capistrano, CA 92675 949-231-0327 shreegoradia@gmail.com

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Texas (Texas) Su Yang Cytogenetics Laboratory U.T. M.D. Anderson Cancer Center 1515 Holcombe Blvd.

Unit 350 Houston, TX 77030 713-792-6330 713-745-3215 FAX suyang@mdanderson.org

Canada Michelle Mah Advanced Diagnostics Lab Princess Margaret Cancer Centre University Health Network 610 University Ave. Toronto, Ontario Canada M5G 2M9 416-946-4501 ext.5036 michelle.j.mah@gmail.com

Non-U.S./Canada Sally Kochmar Pittsburgh Cytogenetics Laboratory Magee-Womens Hospital of UPMC 300 Halket St., Suite 1233 Pittsburgh, PA 15213 412-641-4882 412-641-2255 FAX skochmar@upmc.edu

At-Large Doina Ciobanu 487 Burns Rd. Fair Haven, VT 05743 cdoini@gmail.com

Continuing Education Opportunities

The AGT Education Committee’s Journal Club Journal Clubs are a great way to earn Contact Hours without leaving your home or lab! Journal Clubs can be completed as a group or individually. Each Journal Club includes a reading list, several discussion questions and a post-test. The discussion questions provide a starting point for group discussion and give individuals taking a Journal Club questions to consider while reading the articles. The post-test is taken after reading the articles and is returned to the regional representatives of the Education Committee to be graded.

Each successfully completed Journal Club is worth 4.0 Contact Hours. Journal Clubs can be ordered through the AGT Executive Office.

READING LIST 54 – General Content Area: Chromosome Breakage Syndromes–2006 1. Chromosome Breakage Syndromes and Cancer 2. DEB Test for Fanconi Anemia Detection in Patients with Atypical Phenotype 3. Nijmegen Breakage Syndrome: Clinical Manifestation of Defective Response to DNA Doublestrand Breaks

READING LIST 55 – General Content Area: Array Based Prenatal Genetics–2006 1. Array-based Comparative Genomic Hybridization Facilitates Identification of Breakpoints of a Novel der(1)t(1;18) (p36.3;q23)dn in a Child Presenting with Mental Retardation 2. Detection of Cryptic Chromosome Aberrations in a Patient with a Balanced t(1;9)(p34.2;p24) by Array-based Comparative Genomic Hybridization 3. Jumping Translocations in Multiple Myeloma

READING LIST 56 – General Content Area: Leukemia–2007 1. Fluorescence in situ Hybridization Analysis of Minimal Residual Disease and the Relevance of the der(9) Deletion in Imatinib-treated Patients with Chronic Myeloid Leukemia 2. Characterization of the t(17;19) Translocation by Gene-specific Fluorescent in situ Hybridizationbased Cytogenetics and Detection of the E2A-HLF Fusion Transcript and Protein in Patient’s Cells 3. Combination of Broad Molecular Screening and Cytogenetic Analysis for Genetic Risk Assignment and Diagnosis in Patients with Acute Leukemia

READING LIST 57 – General Content Area: Premature Chromosome Condensation–2007 1. Premature Chromosome Condensation in Humans Associated with Microcephaly and Mental Retardation: A Novel Autosomal Recessive Condition 2. Chromosome Condensation: DNA Compaction in Real Time 3. Phosphatase Inhibitors and Premature Chromosome Condensation in Human

Peripheral Lymphocytes at Different CellCycle Phases

READING LIST 58 – General Content Area: Solid Tumor and FISH–2007 1. Methylthioadenosine Phosphorylase Gene Deletions are Frequently Detected

by Fluorescence in situ Hybridization in Conventional Chondrosarcoma 2. Solid Pseudopapillary Neoplasms of the Pancreas are Associated with FLI-1 Expression, but Not with EWS/FLI-1 Translocation 3. High Incidence of Chromosome 1 Abnormalities in a Series of 27 Renal Oncocytomas: Cytogenetic and Fluorescent In Situ Hybridization Studies

READING LIST 59 – General Content Area: Treatment of Prader-Willi Syndrome with Growth Hormone–2008 1. Two Years of Growth Hormone Therapy in Young Children with Prader-Willi Syndrome: Physical and Neurodevelopmental Benefits - American Journal of Medical Genetics Part A, Volume 143A, Issue 5, pages 443-448, 1 March 2007 2. Growth Hormone Therapy and Scoliosis in Patients with Prader-Willi Syndrome 3. Cause of Sudden, Unexpected Death of Prader-Willi Syndrome Patients with or without Growth Hormone Treatment

READING LIST 60 – General Content Area: Generics of Autism–2008 1. 15q11-13 GABAa Receptor Genes are Normally Biallelically Expressed in Brain yet are Subject to Epigenetic Dysregulation in Autism-Spectrum Disorders 2. Characterization of an AutismAssociated Segmental Maternal Heterodisomy of the Chromosome 15q1113 Region 3. 15q Duplication Associated with Autism in a Multiplex Family with a Familial Cryptic Translocation t(14;15)(q11.2;q13.3) Detected Using Array-CGH

READING LIST 61 – General Content Area: Genetics of Nicotine Addiction–2008 1. Fine Mapping of a Linkage Region on Chromosome 17p13 Reveals that

GABARAP and DLG4 are Associated with Vulnerability to Nicotine Dependence in European-Americans 2. Genomewide Linkage Scan for Nicotine Dependence: Identification of a Chromosome 5 Risk Locus 3. Genetic Linkage to Chromosome 22q12 for a Heavy-Smoking Quantitative Trait in Two Independent Samples

READING LIST 62 – General Content Area: Somatic Mutation Detection–2007 1. Inferring Somatic Mutation Rates Using the Stop-Enhanced Green Fluorescent Protein Mouse 2. Paternal Age at Birth is an Important Determinant of Offspring Telomere Length 3. Genome-Wide SNP Assay Reveals Structural Genomic Variation, Extended Homozygosity and Cellline Induced Alterations in Normal Individuals

READING LIST 63 – General Content Area: Polyglutamine Neurodegenerative Disorders–2007 1. CAG- Encoded Polyglutamine Length Polymorphism in the Human Genome 2. Polyglutamine Neurodegenerative Diseases and Regulation of Transcription: Assembling the Puzzle 3. Pathogenesis and Molecular Targeted Therapy of Spinal and Bulbar Muscular Atrophy

READING LIST 64 – General Content Area: Clinical Applications of Noninvasive Diagnostic Testing–2008 1. Digital PCR for the Molecular Detection of Fetal Chromosomal Aneuploidy 2. Noninvasive Testing for Colorectal Cancer: A Review 3. Novel Blood Biomarkers of Human Urinary Bladder Cancer

READING LIST 65 – General Content Area: Diabetes–2010 1. The Development of c-MET Mutation Detection Assay 2. Molecular Mechanisms of Insulin Resistance in Chronic Hepatitis C 3. A Genetic Diagnosis of HNF1A Diabetes Alters Treatment and Improves

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Continuing Education Opportunities Glycaemic Control in the Majority of Insulin-Treated Patients

READING LIST 66 – General Content Area: Diabetes–2010 1. Distribution of Human Papillomavirus Genotypes in Invasive Squamous Carcinoma of the Vulva 2. Distribution of HPV Genotypes in 282 Women with Cervical Lesions: Evidence for Three Categories of Intraepithelial Lesions Based on Morphology and HPV Type 3. Evaluation of Linear Array Human Papillomavirus Genotyping Using Automatic Optical Imaging Software

READING LIST 67 – General Content Area: Pancreatic Cancer and its Biomarkers–2010 1. Molecular Profiling of Pancreatic Adenocarcinoma and Chronic Pancreatitis Identifies Multiple Genes Differentially Regulated in Pancreatic Cancer 2. Effect of Recombinant Adenovirus Vector Mediated Human Interleukin-24 Gene Transfection on Pancreatic Carcinoma Growth 3. Highly Expressed Genes in Pancreatic Ductal Adenocarcinomas: A Comprehensive Characterization and Comparison of the Transcription Profiles Obtained from Three Major Technologies

READING LIST 68 – General Content Area: Influenza A(H1N1) Virus–2010 1. Detection of Influenza A(H1N1)v Virus by Real-Time RT-PCR 2. Economic Consequences to Society of Pandemic H1N1 Influenza 2009 – Preliminary Results for Sweden 3. Response after One Dose of a Monovalent Influenza A (H1N1) 2009 Vaccine — Preliminary Report

READING LIST 69 – General Content Area: The Development of c-MET Mutation Detection Assay–2010 1. Somatic Mutations in the Tyrosine Kinase Domain of the MET Proto-Oncogene in Papillary Renal Carcinomas 2. Expression and Mutational Analysis of MET in Human Solid Cancers 3. Role of cMET Expression in Non-Small-Cell Lung Cancer Patients Treated with EGFR Tyrosine Kinase Inhibitors

READING LIST 70 – General Content Area: Molecular Cardiology–2010 1. Identification of a Pleiotropic Locus on Chromosome 7q for a Composite Left Ventricular Wall Thickness Factor and Body Mass Index: The HyperGEN Study 2. Novel Quantitative Trait Locus is Mapped to Chromosome 12p11 for Left Ventricular

Mass in Dominican Families: The Family Study of Stroke Risk and Carotid Atherosclerosis 3. Genome-Wide Association Study Identifies Single-Nucleotide Polymorphism in KCNB1 Associated with Left Ventricular Mass in Humans: The HyperGEN Study

READING LIST 71 – General Content Area: Detection of Clarithromycin Resistance in H. Pylori–2010 1. Rapid Detection of Clarithromycin Resistance in Helicobacter Pylori Using a PCR-based Denaturing HPLC Assay 2. Rapid Screening of Clarithromycin Resistance in Helicobacter Pylori by Pyrosequencing 3. Quadruplex Real-Time PCR Assay Using Allele-Specific Scorpion Primers for Detection of Mutations Conferring Clarithromycin Resistance to Helicobacter pylori

READING LIST 72 – General Content Area: Werner Syndrome Gene–2010 1. Telomeric protein TRF2 protects Holliday junctions with telomeric arms from displacement by the Werner syndrome helicase 2. WRN controls formation of extrachromosomal telomeric circles and is required for TRF2DeltaBmediated telomere shortening 3. Sequence-specific processing of telomeric 3' overhangs by the Werner syndrome protein exonuclease activity

READING LIST 73 – General Content Area: Diagnosis of Melanoma Using Fluorescence in Situ Hybridization–2011 1. Using Fluorescence in situ Hybridization (FISH) as an Ancillary Diagnostic Tool in the Diagnosis of Melanocytic Neoplasms 2. Transcriptomic versus Chromosomal Prognostic Markers and Clinical Outcome in Uveal Melanoma 3. Detection of Copy Number Alterations in Metastatic Melanoma by a DNA Fluorescence In situ Hybridization Probe Panel and Array Comparative Genomic Hybridization: A Southwest Oncology Group Study (S9431)

READING LIST 74 – General Content Area: Role of Short Interfering RNA in Gene Silencing–2011 1. Highly Specific Gene Silencing by Artificial miRNAs in Rice.

2. Gene silencing by RNAi in mouse Sertoli cells.

3. Retrovirus-delivered siRNA.

READING LIST 75 – General Content Area: Multiple Myeloma: Molecular Markers and Tests–2010 1. Multiple Myeloma: Lusting for NF-B 2. Functional Interaction of Plasmacytoid Dendritic Cells with Multiple Myeloma Cells: A Therapeutic Target 3. High-resolution genomic profiles define distinct clinico-pathogenetic subgroups of multiple myeloma patients

READING LIST 76 – General Content Area: Colorectal Cancer and Loss of Imprinting of IGF2–2010 1. Loss of imprinting of IGF2 as an epigenetic marker for the risk of human cancer 2. Temporal stability and age-related prevalence of loss of imprinting of the insulin-like growth factor-2 gene.

3. Epigenetics at the Epicenter of Modern Medicine

READING LIST 77 – General Content Area: Health Effects Associated with Disruption of Circadian Rhythms–2011 1. Circadian Polymorphisms associated with Affective Disorders 2. A new approach to understanding the impact of Circadian Disruption on Human Health 3. Circadian Rhythm and its Role in Malignancy

READING LIST 78 – General Content Area: Role of Hedgehog Signaling Pathway in Diffuse Large BCell Lymphoma–2010 1. Sonic hedgehog signaling proteins and ATP-bindig cassette G2 are aberrantly expressed in diffuse large B-cell lymphoma 2. Sonic Hedgehog Signaling Pathway is Activated in ALK-Positive Anaplastic Large Cell Lymphoma 3. Sonic Hedgehog is Produced by Follicular Dendritic Cells and Protects Germinal Center B Cells from Apoptosis

READING LIST 79 – General Content Area: Whole Genome Amplification & 1986 Chernobyl, Ukraine Nuclear Power Plant Accident–2010 1. BAC-FISH assays delineate complex chromosomal rearrangements in a case of post-Chernobyl childhood thyroid cancer.

2. Whole Genome Amplification Technologies - Eliminating the Concern Over Running Out of DNA Samples Mid Experiment.

3. A break-apart fluorescence in situ hybridization assay for detecting RET translocation in papillary thyroid carcinoma.

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Continuing Education Opportunities READING LIST 80 – General Content Area: Expression of miRNA in Diffuse Large B-Cell Lymphoma–2010 1. Differentiation stage specific expression of microRNAs in B lymphocytes and diffuse large B-cell lymphomas.

2. Coordinated Expression of MicroRNA-155 and Predicted Target Genes in Diffuse Large B-cell Lymphoma.

3. Specific expression of miR-17-5p and miR-127 in testicular and central nervous system diffuse large B-cell lymphoma.

READING LIST 81 – General Content Area: The Genetics of Bipolar Disorder–2010 1. Gene-wide analyses of genomewide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk 2. Subcortical Gray Matter Volume Abnormalities in Healthy Bipolar Offspring: Potential Neuroanatomical Risk Marker for Bipolar Disorder?

3. Genetic and Environmental Influences on Pro-Inflammatory Monocytes in Bipolar Disorder

READING LIST 82 – General Content Area: Role and Detection of Human Endogenous Retroviruses in Rheumatoid Arthritis–2011 1. Increase in Human Endogenous Retrovirus HERV-K(HML-2) Viral Load in Active Rheumatoid Arthritis.

2. A role for human endogenous retrovirus-K (HML-2) in rheumatoid arthritis: investigating mechanisms of pathogenesis 3. Lack of Detection of Human Retrovirus-5 Proviral DNA in Synovial Tissue and Blood Specimens From Individuals With Rheumatoid Arthritis or Osteoarthritis.

READING LIST 83 – General Content Area: Roles of Oncogenes in Breast Cancer–2010 1. The Nuclear Receptor Coactivator Amplified in Breast Cancer-1 Is Required for Neu (ErbB2/HER2) Activation, Signaling, and Mammary Tumorigenesis in Mice.

2. Dysregulated miR-183 inhibits migration in breast cancer cells.

3. Current and emerging biomarkers in breast cancer: prognosis and prediction

READING LIST 84 – General Content Area: Elevated Levels of Human Endogenous Retrovirus-W in Patients With First Episode of Schizophrenia–2010 1. Elevated Levels of Human Endogenous Retrovirus-W Transcripts in Blood Cells From Patients With First Episode Schizophrenia.

2. Endogenous Retrovirus Type W GAG and Envelope Protein Antigenemia in Serum

of Schizophrenic Patients.

3. Reduced Expression of Human Endogenous Retrovirus (HERV)– W GAG Protein in the Cingulate Gyrus and Hippocampus in Schizophrenia, Bipolar Disorder, and Depression.

Strategies for Rapid Molecular Resource Development from an Invasive Aphid Species.

3. Evaluation of next generation sequencing platforms for population targeted sequencing studies.

READING LIST 85 – General Content Area: Esophageal Cancer–2010

READING LIST 91 – General Content Area: Hutchinson-Gilford Progeria Syndrome–2011

1. The Changing Face of Esophageal Cancer 2. Epidermal Growth FactorInduced Esophageal Cancer Cell Proliferation Requires Transactivation of-Adrenoceptors 3. Esophageal cancer risk by type of alcohol drinking and smoking: a casecontrol study in Spain

READING LIST 86 – General Content Area: p53 Family and Its Role In Cancer–2010 1. Telomere dysfunction suppresses spontaneous tumorigenesis in vivo by initiating p53-dependent cellular senescence.

2. Shaping genetic alterations in human cancer: the p53 mutation paradigm.

3. p53 polymorphisms: cancer implications.

READING LIST 87 – General Content Area: Proteins Involved with Chronic Myleloid Leukemia and Other Myleoprolifertive Disorders–2011 1. Gain-of-Function Mutation of JAK2 in Myeloproliferative Disorders.

2. Kinase domain mutants of Bcr enhance Bcr-Abl oncogenic effects.

3. Destabilization of Bcr-Abl/Jak2 Network by a Jak2/Abl Kinase Inhibitor ON044580 Overcomes Drug Resistance in Blast Crisis Chronic Myelogenous Leukemia (CML).

READING LIST 88 – General Content Area: DNA Topology–2010 1. The why and how of DNA unlinking.

2. Bacterial DNA topology and infectious disease.

3. DNA topoisomerase II and its growing repertoire of biological functions.

READING LIST 89 – General Content Area: LPL Waldenstrom Macroglobulinemia–2010 1. Spontaneous splenic rupture in Waldenstrom's macroglobulinemia.

2. How I Treat Waldenstrom's Macroglobulinemia.

3. International prognostic scoring system for Waldenström Macroglobulinemia.

READING LIST 90 – General Content Area: Next Generation Sequencing Platforms–2010 1. Rapid whole-genome mutational profiling using next-generation sequencing technologies.

2. Combining Next-Generation Sequencing

1. Epidermal expression of the truncated prelamin a causing Hutchinson– Gilford progeria syndrome: effects on keratinocytes, hair and skin 2. Defective Lamin A-Rb Signaling in Hutchinson-Gilford Progeria Syndrome and Reversal by Farnesyltransferase Inhibition 3. Increased expression of the Hutchinson– Gilford progeria syndrome truncated lamin a transcript during cell aging.

READING LIST 92 – General Content Area: Severe Combined Immunodeficiency Screening and Patient Studies–2011 1. Long-term Outcome after Hematopoietic Stem Cell Transplantation of a Singlecenter Cohort of 90 Patients with Severe Combined Immunodeficiency.

2. Why Newborn Screening for Severe Combined Immunodeficiency Is Essential: A Case Report.

3. Development of a Routine Newborn Screening Protocol for Severe Combined Immunodeficiency.

READING LIST 93 – General Content Area: Biological and Physical Hazards Encountered in the Laboratory–2011 1. Lab Safety Matters.

2. Virus Transfer from Personal Protective Equipment to Healthcare Employees’ Skin and Clothing. Emerging Infectious Diseases.

3. Prevalence of Hepatitis C Virus Infection Among Health-Care Workers: A 10-Year Survey.

READING LIST 94 – General Content Area: Rapid whole-genome mutational profiling using nextgeneration sequencing technologies–2011 1. Comparison of next generation sequencing technologies for transcriptome characterization.

2. ShortRead: a bioconductor package for input, quality assessment and exploration of highthroughput sequence data.

3. Next-Generation Sequencing: From Basic Research to Diagnostics.

READING LIST 95 – General Content Area: Cell Death–2011 1. Hypoxia induces autophagic cell death in apoptosis-competent cells through a mechanism involving BNIP3.

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Continuing Education Opportunities 2. Truncated forms of BNIP3 act as dominant negatives inhibiting hypoxiainduced cell death.

3. Hypoxia-Induced Autophagy Is Mediated through Hypoxia-Inducible Factor Induction of BNIP3 and BNIP3L via Their BH3 Domains.

3. Evidence for Three Loci Modifying Ageat-Onset of Alzheimer’s Disease in EarlyOnset PSEN2 Families.

READING LIST 96 – General Content Area: Genetic Associations of Cerebral Palsy– 2011

1. A multiplex one-step real-time RT-PCR assay for influenza surveillance.

2. Taking New Tack, PrimeraDx Offers MDx Tech as Open Platform for Test Developers.

3. Comparison of Automated Microarray Detection with Real-Time PCR Assays for Detection of Respiratory Viruses in Specimens Obtained from Children.

1. Mannose-binding lectin haplotypes may be associated with cerebral palsy only after perinatal viral exposure.

2. Methylenetetrahydrofolate Reductase Gene Polymorphisms and Cerebral Palsy in Chinese Infants.

3. Apolipoprotein E genotype and cerebral palsy.

READING LIST 97 – General Content Area: Treatments for HIV/AIDs–2011 1. Early Antiretroviral Therapy Reduces AIDS Progression/Death in Individuals with Acute Opportunistic Infections: A Multicenter Randomized Strategy Trial.

2. Asia can afford universal access for aids prevention and treatment.

3. Trends in reported aids defining illnesses (adis) among participants in a universal antiretroviral therapy program: an observational study.

READING LIST 98 – General Content Area: Myosin Light Chain Kinase (MYLK) Gene Mutation Affect in Smooth Muscle Cells– 2012 1. Myosin light chain kinase is central to smooth muscle contraction and required for gastrointestinal motility in mice.

2. Mutation in myosin light chain kinase cause familial aortic dissections.

3. Chemical genetics of zipper-interacting protein kinase reveal myosin light chain as a bona fide substrate in permeabilized arterial smooth muscle.

READING LIST 99 – General Content Area: Chromosome 6 and Its Associated Diseases–2011 1. Novel Cleft Susceptibility Genes in Chromosome 6q.

2. A susceptibility locus on chromosome 6q greatly increases risk lung cancer risk among light and never smokers.

3. The identification of chromosomal translocation, t(4;6)(q22;q15), in prostate cancer.

READING LIST 100 – General Content Area: Early onset of autosomal dominant Alzheimer disease–2011 1. Genetics of Alzheimer Disease.

2. New mutation in the PSEN1 (E120G) gene associated with early onset Alzheimer’s disease.

READING LIST 101 – General Content Area: Multiplex PCR and Emerging Technologies for the Detection of Respiratory Pathogens–2011

neuronal trigger for inflammation and Alzheimer’s pathology.

3. The inflammasome: a caspase-1activation platform that regulates immune responses and disease pathogenesis.

READING LIST 106 – General Content Area: DNA Barcoding–2011 1. Commercial Teas Highlight Plant DNA Barcode Identification Successes and Obstacles.

2. Mutational Patterns and DNA Barcode for Diagnosing Chikungunya Virus.

3. The Barcode of Life Data Portal: Bridging the Biodiversity Informatics Divide for DNA Barcoding.

READING LIST 102 – General Content Area: Single Nucleotide Polymorphism (SNP) Array Analysis–2011

READING LIST 107 – General Content Area: HERV-K and Its Correlation With Melanoma Cells–2011

1. A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data.

2. SAQC: SNP array quality control.

3. Calibrating the performance of SNP arrays for whole-genome association studies.

1. Expression of human endogenous retrovirus K in melanomas and melanoma cell lines Cancer.

2. Expression of HERV-K correlates with status of MEK-ERK and p16INK4A-CDK4 pathways in melanoma cells cancer.

3. An endogenous retrovirus derived from human melanoma cells.

READING LIST 103 – General Content Area: Research of BRAF Gene Related to Cancer–2011

READING LIST 108 – General Content Area: Refractory Myeloma–2011

1. Kinase-Dead BRAF and Oncogenic RAS Cooperate to Drive Tumor Progression through CRAF. 2. Distinct patterns of DNA copy number alterations associate with BRAF mutations in melanomas and melanoma derived cell lines.

3. Pharmacodynamic Characterization of the Efficacy Signals Due to Selective BRAF Inhibition with PLX4032 in Malignant Melanoma.

READING LIST 104 – General Content Area: Microarray Single Nucleotide Polymorphism (SNP) Troubleshooting–2011 1. Model-based clustering of array CGH data.

2. Application of a target array comparative genomic hybridization to prenatal diagnosis.

3. A model-based circular binary segmentation algorithm for the analysis of array CGH data.

READING LIST 105 – General Content Area: Inflammasome Activation by Proteins–2011 1. Activation of the NLRP3 inflammasome by islet amyloid polypeptide provides a mechanism for enhanced IL-1 2 in type 2 diabetes.

2. ER stress in Alzheimer’s disease: A novel

1. Pomalidomide plus low-dose dexamethasone in myeloma refractory to both bortezomib and lenalidomide: comparison of 2 dosing strategies in dual-refractory disease.

2. Relapse/Refractory Myeloma Patient: Potential Treatment Guidelines.

3. Emerging role of carfilzomib in treatment of relapsed and refractory lymphoid neoplasms and multiple myeloma.

READING LIST 109 – General Content Area: Short Tandem Repeat (STR) Technology in Forensic Community–2011 1. An integrated microdevice for highperformance short tandem repeat genotyping.

2. A comparison of the effects of PCR inhibition in quantitative PCR and forensic STR analysis.

3. Generating STR profile from "Touch DNA".

READING LIST 110 – General Content Area: Methods of Screening and Evaluation of Hepatitis C Virus–2011 1. Hepatitis c virus: prevention, screening, and interpretation of assays.

2. Serial follow-up of repeat voluntary blood donors reactive for anti-hcv elisa.

3. Comparison of fibrotest-actitest with histopathology in demonstrating fibrosis and necroinflammatory activity in chronic hepatitis b and c.

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Continuing Education Opportunities READING LIST 111 – General Content Area: Pharmacogenomics–2011 1. Pharmacogenomic testing: Relevance in medical practice: Why drugs work in some patients but not in others.

2. Clinical assessment incorporating a personal genome.

3. Genomics and drug response.

READING LIST 112 – General Content Area: Adrenoleukodystrophy–2011 1. Novel exon nucleotide deletion causes adrenoleukodystrophy in a Brazilian family.

2. X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.

3. Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with Xlinked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.

READING LIST 113 – General Content Area: Quality Assurance and Quality Control of Microarray Comparative Genomic Hybridization–2011 1. Customized oligonucleotide array-based comparative genomic hybridization as a clinical assay for genomic profiling of chronic lymphocytic leukemia.

2. Comparison of familial and sporadic chronic lymphocytic leukaemia using

high resolution array comparative genomic hybridization.

3. Microarray-based comparative genomic hybridization.

READING LIST 114 – General Content Area: mFISH–2012 1. Human interphase chromosomes: a review of available molecular cytogenetic technologies.

2. Establishment of a new human pleomorphic malignant fibrous histiocytoma cell line, FU-MFH-2: molecular cytogenetic characterization by multicolor fluorescence in situ hybridization and comparative genomic hybridization.

3. CD5-negative Blastoid Variant Mantle Cell Lymphoma with Complex CCND1/ IGH and MYC Aberrations.

READING LIST 116 – General Content Area: Autism - 2015 1. Intellectual disability and autism spectrum disorders: Causal genes and molecular mechanisms.

2. Aberrant tryptophan metabolism: the unifying biochemical basis for autism spectrum disorders?

3. Decreased tryptophan metabolism in patients with autism spectrum disorders

READING LIST 115 – General Content Area: Cystic Fibrosis - 2014 1. Rapid Detection of the ACMG/ACOGRecommended 23 CFTR DiseaseCausing Mutations Using Ion Torrent Semiconductor Sequencing 2. Long-Term Evaluation of Genetic Counseling Following False-Positive Newborn Screen for Cystic Fibrosis 3. Rapid Transport of Muco-Inert Nanoparticles in Cystic Fibrosis Sputum Treated with N-acetyl cysteine

Copyright law prohibits AGT from supplying readers with the actual journal articles (electronically or otherwise). Availability of articles online does not imply the service is free.

Some journals require a subscription or impose a fee. The web addresses are included for the convenience of those wishing to obtain the articles in this way.

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Continuing Education Opportunities

AGT Journal Club Question Order Form

To order the AGT Journal Club Questions, please fill in the requested information below. Make check or money order payable to AGT. Copyright law prohibits AGT from supplying readers with the actual journal articles (electronically or otherwise).

Participants must obtain articles themselves.

Discussion and Question Set for Reading List No. (Please enter the number of copies requested next to each Journal Club Number) ____54

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Association Business

Message from the President Greetings all you Genetic Technology Professionals!

If you have gotten this far without reading Mark Terry’s editorial, please go back and read it now. It is a brilliant assessment of why AGT finds itself in a financial and identity conundrum. It’s definitely worth a read. The only additional benefit of AGT membership that I would add to his list is the establishment of a wide-reaching network that will bring an abundance of technical expertise and joy to both your professional life and your personal life. Every time I attended an AGT conference (every year since 1982) I came away energized and excited. Not only did I have the opportunity to find answers to my technical questions, but I also was able to assist others with their difficulties, thus validating my own techniques. It’s very nice to know that your expertise is appreciated!

Perhaps the greatest motivation for me to attend as many AGT conferences as I could was to spend time with my growing network of colleagues who ultimately became lifelong friends. No, “friends” is not an adequate assessment, they are family. I urge you to start your new “family” by attending the 2017 AGT conference in Saint Louis, Missouri.

As AGT president I have the opportunity to listen in on the conference planning updates. Let me tell you, I am very excited about next year’s program. The meeting directors, Jennifer Sanmann and Tina Mendiola, have done a stellar job, with changes to the meeting structure, more platform presentations, and more opportunities for face-to-face interaction.

Molecular and cytogenetics topics are just about equal on the program, so please urge your colleagues in the molecular lab to check out the program. Genetics trivia will be back, so you better re-read your genetics textbooks! I don’t want to give too much away, but the keynote speaker is awesome!!! Just a hint, do you know why elephants don’t get cancer?

The Gordon Dewald speaker, a colleague of Gordy’s, is also great, and very entertaining! So, if I have piqued your interest, please remember to renew your membership so you can get the conference discount.

If any of your colleagues are not members, please urge them to join and go to the conference with you! No funding?

Whose career is it? Is it yours or your employers?? Take charge of your professional life—I guarantee that you won’t regret it! Why not take advantage of one of the awards that AGT and FGT sponsor? They come with cash, and what better way to spend it than to attend an AGT conference? Why not look into it? Will I meet you in St. Louis, Louie??

Pat Dowling, AGT President

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Association Business

AGT, The Organization for Cytogenetic & Molecular Professionals AGT, originally founded in 1975 as the Association of Cytogenetic Technologists, serves to: • promote the scientific and professional development of all areas of genetics; • foster the exchange of information between those interested in genetics; • encourage cooperation between those persons actively or formerly engaged in genetics; and • stimulate interest in genetics as a career.

AGT has approximately 1,000 members. Membership is open to all who are employed or interested in genetics. All regular members are entitled to hold office, vote in elections, attend all AGT meetings, and receive The Journal of the Association of Genetic Technologists and access the AGT International Online Membership Directory.

Board of Directors Officers President Patricia K. Dowling, PhD Pathline Labs 535 E. Crescent Ave. Ramsey, NJ 07446 PDowling@pathlinelabs.com President-Elect Jason A. Yuhas, BS, CG(ASCP)CM Mayo Clinic Division of Laboratory Genetics Cytogenetics Lab 200 First St. SW Rochester, MN 55905 507-538-7634 yuhas.jason@mayo.edu Secretary-Treasurer Denise Juroske Short, MSFS, MB(ASCP)CM 219 Timberland Trail Lane.

Lake City, TN 37769 dmj4565@gmail.com Public Relations Director Ephrem Chin MBA, MB(ASCP)CM, QLC Oxford Gene Technology 520 White Plains Road, Suite 500 Tarrytown, NY 10591 404-579-9995 nzelfman@gmail.com Education Director Sally J. Kochmar, MS, CG(ASCP)CM Magee-Womens Hospital Pittsburgh Cytogenetics Lab 300 Halket St., Room 1233 Pittsburgh, PA 15213 412-641-4882 skochmar@upmc.edu

Annual Meeting Director Jennifer N. Sanmann, PhD, FACMG UNMC Human Genetics Laboratory 985440 NE Med. Center Omaha, NE 68198-5440 402-559-3145 jsanmann@unmc.edu Annual Meeting Co-Director Christina Mendiola, BS, CG(ASCP)CM University of Texas Health Science Center – San Antonio 7703 Floyd Curl Dr. San Antonio, TX 78229 210-567-4050 mendiolac@uthscsa.edu

Council of Representatives Representative to CCCLW Term: 7/14 – 6/20 Hilary E. Blair, BS, MS, CG(ASCP)CM Mayo Clinic 200 First St. SW Rochester, MN 55905 507-255-4385 blair.hilary@mayo.edu Representatives to BOC Term: 10/12 – 9/18 Helen Bixenman, MBA/HCM, CHC, CG(ASCP)CM, DLMCM, QLC San Diego Blood Bank 3636 Gateway Ctr. Ave., Ste. 100 San Diego, CA 92102 619-400-8254 hbixenman@sandiegobloodbank.org Term: 10/11 – 9/16 Amy R. Groszbach, MEd, MLT(ASCP)CM, MBCM Mayo Clinic Molecular Genetics Laboratory – Hilton 920 200 First St. SW Rochester, MN 55905 507-284-1229 groszbach.amy@mayo.edu

Representative to NAACLS Term: 9/12 – 9/16 Peter C. Hu, PhD, MS, MLS(ASCP)CM, CGCM, MBCM University of Texas M.D. Anderson Cancer Center School of Health Sciences 1515 Holcomb Blvd., Box 2 Houston, TX 77030 713-563-3095 pchu@mdanderson.org Representative to Foundation for Genetic Technology Term: 7/10 – 6/16 Patricia LeMay, MT(ASCP), CG(ASCP)CM Monmouth Medical Center Department of Pathology 300 Second Ave. Long Branch, NJ 07740 732-923-7369 plemay1945@aol.com Representative to CAP/ACMG Term: 1/16 – 12/21 Jun Gu, MD, PhD, CG(ASCP)CM University of Texas MD Anderson Cancer Center School of Health Professions Cytogenetic Technology Program 1515 Holcombe Boulevard, Unit 2 Houston, TX 77030 (713) 563-3094 jungu@mdanderson.org

Publications AGT Journal Editor Mark D. Terry 1264 Keble Lane Oxford, MI 48371 248-628-3025 markterry@charter.net

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Other Contacts Liaison to ASCLS Governmental Affairs Committee Kathryn Sudduth, BA, CG(ASCP)CM, DLMCM 2713 Brookmere Road Charlottesville, VA 22901 434-973-0690 kas3m2@embarqmail.com FGT Board of Trustees President Robin A. Vandergon, CG(ASCP)CM, DLMCM 8767 E. Los Altos Ave. Clovis, CA 93619 559-392-0512 rrink@quixnet.net

Executive Office AGT 4400 College Blvd, Suite 220 Overland Park, KS 66211 913-222-8665 913-222-8606 FAX agt-info@kellencompany.com www.AGT-info.org

Staff Contacts: Monica Evans-Lombe, Executive Director 913-222-8636 mevanslombe@kellencompany.com Christie Ross, Education Program Coordinator 913-222-8626 cbross@kellencompany.com Diane Northup, Administrative Assistant 913-222-8630 dnorthup@kellencompany.com

Association Business

AGT 2017 Call for Abstracts

ABSTRACT DUE DATE: Friday, February 3, 2017

Dialogue and the sharing of ideas is critical to the success of our field, so we want to hear about the work being done in your laboratories. The 42nd Annual Meeting Program Committee invites all interested persons to submit abstracts New for the AGT 42nd Annual Meeting, June 15-17, 2017, in St. Louis, Missouri.

Meeting New in 2017: • A significant increase in the number of submissions selected for a platform presentation Format!

• Multiple platform presentation sessions throughout the scientific meeting • Focused platform presentation sessions, such as cytogenetics and molecular genetics • Expanded areas of interest, to include topics such as clinical genetics, genetic counseling and regulatory affairs Abstracts will be printed in the Final Program Book and in the 2017 Third Quarter issue of the Journal of the Association of Genetic Technologists if they are presented at the meeting.

All abstracts must contain: • a description of the study design, • a statement of results (including data), and • an informative conclusion.

Abstracts will be assigned to platform or poster presentations by a Review Committee. The Committee will consider the author’s preference and the time constraints of the meeting.

Poster Presentations

Submission Requirements

Abstracts must be submitted electronically through AGT’s online submission site. If you are submitting more than one abstract, you must submit each abstract separately. You may submit your abstract here: https://www.surveymonkey.com/r/ AGT2017Abstracts.

It is important that you follow all instructions carefully.

Abstracts submitted incorrectly will not be considered for presentation.

ABSTRACTS MUST BE RECEIVED BY FRIDAY, February 3, 2017.

Poster presentations are scheduled for Friday, June 16 and Saturday, June 17.

Please Note: First authors on posters must be AGT members at the time of submission in order to be eligible to win the Best Poster Award.

Platform Presentations

Platform presentations are limited to 15 minutes each: twelve minutes for the presentation and three minutes for questions/ discussion. If AGT accepts your abstract for platform presentation, you will receive notification by March 31, 2017. Abstracts not accepted for platform presentation may be accepted for poster presentation.

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Association Business

AGT 2017 Call for Student Abstracts & Student Research Award Entries ABSTRACT DUE DATE: Friday, March 3, 2017

Student members enrolled in an accredited Cytogenetics or Diagnostic Molecular Science program are invited to submit student abstracts for presentation and as an entry for the 2017 Student Research Award. The award will be presented to the recipient at the 2017 Annual Meeting of the Association of Genetic Technologists in St. Louis, Missouri, June 15-17, 2017. The entries are submitted to the AGT Executive Office, which then forwards the abstracts to a panel of Association members. The winner is selected by this panel based on a scored evaluation of the submitted abstracts. All other participants will be invited to present a poster at the Annual Meeting.

Eligibility

Criteria

• Individuals/students eligible to submit abstracts for the award are:

• A purpose for the experiment or investigation where the scientific merit or contribution is stated.

• A hypothesis, which indicates scientific expectations of the investigation and should be appropriate for the purpose.

• Scientific methods which are appropriate to the investigation, concise and organized.

• Data resulting from the investigation/experiment should be concise, specific and organized.

• The interpretation should be consistent with the data.

• The conclusions should be consistent with the data and interpretation. They may be intertwined with the interpretation, should support or refute the hypothesis, and should include the need for further investigation or suggest how other variables may influence the results.

• References should be used when appropriate. The institution name or any other identifying information should not be included in the abstract.

¢

Those enrolled in a NAACLS “Serious Applicant Status” or “Accredited” undergraduate or certificate program in Cytogenetics or Diagnostic Molecular Science (U.S. Programs).

¢

Those enrolled in a Canadian Society of Laboratory Technology Approved undergraduate or certificate program in Cytogenetics or Molecular Biology (Canadian programs).

¢

Those attending formal undergraduate or certificate programs outside of the United States and Canada if the program is recognized at the national level of the country in which the program is located.

• Applicants MUST be enrolled in the program between March 1, 2016 and March 4, 2017.

• Individuals/students graduated prior to March 1, 2016 are not eligible.

• Applicants must be members of the Association of Genetic Technologists at the time of application to be eligible to win the Vicki Hopwood Student Research Award, but nonmembers may submit an abstract in the student category.

Information regarding AGT membership is available from your program director or the AGT Executive Office.

Submission Requirements Abstracts must be submitted electronically at: https://www. surveymonkey.com/r/AGT2017StudentAbstracts. If you are submitting more than one abstract, you must submit each abstract separately.

It is important that you follow all instructions within the online submission site carefully. Abstracts submitted incorrectly will not be considered for presentation.

• The applicant will be required to be the first author on the abstract.

• The applicant and a program official will be required to validate that: the research was conducted during enrollment and completed prior to graduation from the program, the applicant was the primary investigator, and the abstract submitted is the work of the applicant.

Student Research Award • The recipient will be notified by April 28, 2017.

• The winner will receive complimentary 2017 Annual Meeting registration and expenses to travel to the meeting.

• The recipient will be invited to present his/her research in a 10-minute platform presentation.

• All other submissions will be considered for poster presentation.

• Applications may be submitted throughout the year in order to be considered for the 2017 Student Research Award. All entries received after March 3, 2017 will be considered for the 2018 Student Research Award.

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2017 AGT Outstanding Achievement Award Nomination Nominations are open for the 2016 AGT Outstanding Achievement Award. We are looking for those who are committed to furthering the field of genetics as demonstrated by their work, attitude and AGT activities. If you have a colleague who performs above and beyond the call of duty, nominate him or her for the AGT Outstanding Achievement Award today. All nominees must be AGT members, however they cannot be current AGT Board members or on its Council of Representatives.

NOMINATIONS MUST BE POSTMARKED NO LATER THAN FEBRUARY 3, 2017.

Requirements 1. The nominee works as or has worked as a genetic technologist (this does not include postdoctoral fellowships).

2. Current membership in AGT 3. Current certification in cytogenetics, molecular genetics or biochemical genetics 4. A letter from the nominee stating accomplishments and contributions to the field of genetic

technology with reference to the award criteria. The letter should state specifically how the nominee’s expertise and contributions have furthered genetic technology.

5. Two letters of support from individuals familiar with the nominee’s accomplishments 6. Copies of relevant publications authored by the candidate (maximum of five) 7. A current résumé

Criteria 1.

2.

3.

4.

5.

6.

7.

Return to: AGT Executive Office 4400 College Boulevard, Suite 220 Overland Park, KS 66211 Fax: 913-222-8606 AGT-info@kellencompa ny.com

Employment in the field of genetic technology (include length of time and positions held) Consideration of total length of time as AGT member AGT service (past service on the AGT Board of Directors, Council of Representatives, committees and task forces, editorships, etc.).

4. Presentations at the AGT annual meeting (featured speaker, workshop or breakout session presenter, platform presenter) Other educational and continuing education activities (teaches genetic technology; gives seminars, workshops or lectures; other genetic technology-related educational activities) Publications relevant to genetic technology, education and/or management (list all publications, including journal articles, books, posters, abstracts, etc.)

Development and/or implementation of new methods or procedures Other contributions to the fields of genetic technology

Nominee’s Name: Company/Institution: Address: City, State, Zip: Phone:

Email:

I am nominating this person for the AGT Outstanding Achievement Award because:

Nominated by (Name): Address: City, State Zip Phone:

Email:

AGT accepts classified job advertising for:    

Posting on Jobline page of the web site; Online postings are also included in the monthly e-news blast to members.

E-blast to AGT members For publication in JAGT (Journal of the Association of Genetic Technologists) For publication in AGT e-news only - monthly blast to members

Advertisements submitted for posting on the website or as an e-blast are generally completed within approximately 48 hours of acknowledged receipt. If logos are to be used on the posting, they must be submitted in GIF. or JPG. format. Logos and text must be submitted via e-mail.

Advertisements submitted for publication in the Journal of the Association of Genetic Technologists (JAGT) must be submitted by the deadline date for the requested issue and adhere to the mechanical requirements outlined on the insertion order form.

To place your order for advertising, please complete the appropriate form and submit to the AGT Executive Office via email agt-info@kellencompany.com.

Forms can be found on the AGT website here: http://www.agt-info.org/Pages/pricing.aspx

Association Business

The Foundation for Genetic Technology (FGT) was organized exclusively for scientific and educational purposes. It is a non-profit organization whose funds and assets are used to promote education in genetic technology and provide professional opportunities for training through grants, scholarships and awards.

As always, behind the scenes, the dedicated members of the Foundation work throughout the year to strive to continue the mission of the FGT. Along with support from AGT, the Foundation is able to fund the scholarships and grants that were presented at the Annual AGT Meeting. None of this would have been possible without the help of the donors, vendor sponsorships and the members-at-large of AGT. Once again, the Foundation is fiscally solvent this year, which is a tribute to our many hard-working and dedicated members.

A major source of income for FGT comes from the sale of the study guides for the Cytogenetic and Molecular exams. These are available year-round and can be purchased by visiting the AGT website, and accessing FGT from the Resources tab. Another financial resource has been regional meetings sponsored by FGT. The West Coast meeting is usually in March, and the East Coast meeting is scheduled in September. Please refer to the website for further meeting information.

The Silent Auction at the AGT Annual Meeting was a tremendous success, with over $600 of donated items. This event has proven to be a great way for the FGT to raise money and also promote interaction among the attendees. Thank you to everyone who participated… those of you who donated items, the winners of our auction and those who stopped by the FGT booth to inquire about us. Your input is important, and your interest is vital to keep FGT opportunities available. For more information, email Pat LeMay at plemay1945@aol. com.

DO YOU KNOW SOMEONE …?

Having just come off a very successful AGT Annual Meeting in Orange County, California, it is time to look ahead to 2017.

Along with AGT and our corporate sponsors, the Foundation for Genetic Technology has many scholarships and awards that we present at the AGT Annual Meeting every year. A complete list, along with requirements, application forms and submission deadlines is listed in the FGT section on the AGT website. There is a wide range of awards available and something for every AGT member to consider…from the newly certified technologist to the career-oriented professional and the seasoned veteran technologist. We encourage each AGT member to consider nominating someone for these awards. It is a wonderful way to acknowledge the accomplishments and the dedication of those individuals who we know work so hard for the field of genetics. There are many qualified candidates, many of whom work in small laboratories that may feel out of the loop, but each application is reviewed by a committee, and is not a popular vote.

You owe it to yourselves, as AGT members, to recognize outstanding members of our professional organization. If we fail to promote ourselves, then no one is going to do it for us. So, if you know an AGT member who demonstrates passion, knowledge and a commitment to genetics, please check out the various awards that our organization sponsors.

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Association Business

Foundation for Genetic Technology 4400 College Blvd, Suite 220 • Overland Park, KS 66211 FGT website: http://www.AGT-info.org/Pages/fgt.aspx

2017 Grants & Awards Deadline: March 31, 2017 For more information, guidelines, criteria and application forms for the grant and awards listed below visit the FGT website at http://www.agt-info.org/Pages/fgt.aspx.

Outstanding Technologist Grant ($500) Honors an outstanding AGT member technologist who is BOC-certified with

three or more years of work experience in the genetic industry. Sponsored by Leica Microsystems.

Florence Dowling Genome Award ($500) Acknowledges and honors outstanding technologists in cytogenetics and molecular genetic technology. This award program contributes to the growth of genetic technology as a profession by recognizing individuals with superior professional commitment. Sponsored by Patricia Dowling.

New Horizons Award ($750) Honors newly certified AGT members who submit an essay about their genetic experience and desire to attend the AGT Annual Meeting. Sponsored by Rainbow Scientific.

EXCEL Award ($500) AGT members enrolled in a formal university/hospital or laboratory-based program in diagnostic

molecular technology or a NAACLS-accredited certificate or undergraduate cytogenetics or molecular program may be eligible to compete for free student registration to the AGT 42nd Annual Meeting, as well as one full-day or two half-day workshops.

Sponsored by Oxford Technology.

Barbara J. Kaplan Scholarship ($1,000) AGT members enrolled in a formal training program, including university/

hospital, laboratory-based or a NAACLS-accredited program for molecular genetics or cytogenetics may be eligible for the $1,000 scholarship. Program directors may visit the FGT website for more information. Sponsored by FGT. Joseph Waurin Excellence in Education Award ($500) Honors an outstanding AGT member educator in the genetic

community that is BOC-certified and has a minimum of five years of teaching experience. Sponsored by James Waurin.

Best Poster Award ($300) All AGT members attending the AGT Annual Meeting may vote for the poster that fits the winning criteria (i.e., interesting and informative topic, well-organized, clear and concise data, best illustrations, clinical/ laboratory correlation and cutting-edge technology) submitted by an AGT member by the abstract deadline. Sponsored by Irvine Scientific.

Best Platform Presentation Award ($500) All AGT members attending the platform presentations at the AGT Annual Meeting may vote for the presentation that best fits the winning criteria (i.e., presentation must be given by a technologist, be an interesting and informative topic, have clinical/laboratory correlation and present cutting-edge technology). An AGT member must be among the authors of the abstract submitted by the abstract deadline. Sponsored by FGT. Best Exhibitor Booth Award

Honors exhibitors at the AGT Annual Meeting. AGT members will vote by ballot on the following criteria: 1. Best interaction (quality of interaction) with AGT membership, including availability to meeting participants and answering questions with detail.

2. Most valuable technical information or product information, including presentation of literature available.

3. Best overall booth design, including appearance of exhibit and visual impact of the display.

4. Most innovative gifts/raffles for attendees.

5. Creativity.

6. Only exhibitors listed in the final program will be eligible.

Please refer to the website listed above for the details and the application forms for all of these awards, grants and scholarships.

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Association Business

Foundation for Genetic Technology 2015-2016 Board of Trustees Voting Members President Robin Vandergon NeoGenomics 30 E River Park Place West, Ste. 400 Fresno, CA 93720 559-392-0512 cell 559-433-6601 Fax rvandergon@neogenomics.com Vice President, AGT Representative, Grants Committee Chair Patricia LeMay 301-22 Spring Street Red Bank, NJ 07701 plemay1945@aol.com Secretary DeNesha Criswell NeoGenomics 618 Grassmere Park Drive, Unit 20 Nashville, TN 37211

Treasurer, Chair Capital Management Committee Tara Ellingham MUSC-Children’s Hospital Cytogenetics Lab 165 Ashley Ave., Suite 309 Charleston, SC 29425 843-792-6873 ellingha@musc.edu tellingham@hotmail.com

Public Member, Corporate Compliance Officer Bob Gasparini Consultant 12701 Commonwealth Dr. Ft. Myers, FL 33913 239-357-4237 bgasparini@neogenomics.com

Non Voting Members

AGT Representative, Awards & Scholarship Chair Denise Juroske Short 219 Timberland Trail Ln. Lake City, TN 37769 832-878-6119 dmj4565@gmail.com

Advisor, AGT President Patricia K. Dowling Pathline Labs 535 E. Crescent Ave. Ramsey, NJ 07446 PDowling@pathlinelabs.com

Public Member, Chair FGT Fundraising Jeff Sanford MetaSystems Group, Inc. 70 Bridge St., Ste. 100 Newton, MA 02458 617-924-9950 jsanford@metasystems.org

Ex-Officio, AGT Education Director Sally J. Kochmar Magee-Womens Hospital Pittsburgh Cytogenetics Lab 300 Halket St., Room 1233 Pittsburgh, PA 15213 412-641-4882 skochmar@upmc.edu

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AGT 42nd Annual Meeting

June 15-17, 2017 St. Louis Union Station Hotel St. Louis, MO

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WE HOPE TO SEE YOU IN ST. LOUIS!

For the latest information on educational programing, registraiton and hotel for the

AGT 42nd Annual Meeting visit our website at www.AGT-info.org!

Register Online - Registration will open in early January 2017 Book your hotel room by May 22

You will not want to miss out on this year's outstanding scientific program, so register early.

Enter the code PC1 when you register to be entered into a prize drawing!

Connect with us!

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• Explore our degree program in Cytogenetic Technology including on campus part-time enrollment, oncampus full-time enrollment, and hybrid online enrollment • Explore our Internet-Based Review Course in Clinical Cytogenetics with ongoing enrollment • Explore our Annual Comprehensive Review Course in Clinical Cytogenetics to prepare for ASCP-BOC (CG) exam For more information contact Jun Gu, M.D., Ph.D., CG (ASCP) Program Director/Associate Professor jungu@mdanderson.org 1-800-551-9503

PRODUCT ORDER FORM Item Description

Member

NonMember

$65

$80

$40

$55

$35

$50

Quantity

Total $

The AGT Cytogenetics Laboratory Manual, 3rd Edition

[Please note: Note: The 4th Edition of AGT's Cytogenetics Laboratory Manual is currently in production.

Click here to preorder publication now through the publisher (available December 2016)]

The Cytogenetics Symposia, 2nd Edition

The AGT Molecular Biology Techniques Review Guide Select method of delivery:

 Dropbox (no shipping cost)  Secure Document Hyperlink (no shipping cost) The Dynamics of Chromosome Spreading Video – CD featuring Jack Spurbeck

Shipping/Handling ($10 per item)*

$

TOTAL

$

*INTERNATIONAL ORDERS – Shipping charged directly to recipient. Please provide a Federal Express account number or the credit card number below will be charged separately for shipping.

Name Shipping Address

Method of Payment: Check Visa MasterCard

AMEX Discover

Account Number Expiration Date

City,State Zip

Name on Account

Phone No.

Signature on Account

Email

AGT Executive Office, 4400 College Boulevard, Suite 220, Overland Park, KS 66211 Fax (913) 222-8606  Email: agt-info@kellencompany.com  Website: www.agt-info.org

Please allow 2-4 weeks for shipping.

Meeting/Workshop Announcements

2017-2018 Scientific Meetings Schedule

If you know of a relevant meeting, please send information to Ephrem Chin, Public Relations Director at nzelfman@gmail.com.

We are always looking to improve AGT’s annual meeting. If you attend a meeting and see something you think would enhance our meeting, please email your ideas to Jennifer Sanmann, Annual Meeting Director at jsanmann@unmc.edu.

Meeting

Location

Dates

Website

2017 European Cancer Organization ECO2017 European Cancer Congress

Amsterdam, Netherlands

January 27-30, 2017

www.ecco-org.eu

HUGO HGM 2017

Barcelona, Spain

February 2017

www.hugo-international.org

Conference on Retrovirus & Opportunistic Infections (CROI)

Seattle, WA

February 12-16, 2017

www.retroconference.org

American Association for the Advancement of Science (AAAS) Annual Meeting

Boston, MA

February 16-20, 2017

www.aaas.org

American Academy of Allergy, Asthma, & Immunology (AAAAI)

Atlanta, GA

March 3-6, 2017

www.aaaai.org

United States & Canadian Academy of Pathology (USCAP) Annual Meeting

San Antonio, TX

March 4-10, 2017

www.uscap.org

Society of Maternal/Fetal Medicine (SMFM) 9th International Symposium on Diabetes, Hypertension, Metabolic Syndrome and Pregnancy

Barcelona, Spain

March 8-12, 2017

www.smfm.org

Association for Gerontology in Higher Education (AGHE) Annual Meeting and Educational Leadership Conference

Miami, FL

March 9-12, 2017

www.aghe.org

Society for Reproductive Investigation (SRI) Annual Scientific Meeting

Orlando, FL

March 15-18, 2017

www.sri-online.org

American College of Cardiology (ACC) Scientific Session & Expo

Washington, DC

March 17-19, 2017

www.acc.org

American College of Medical Genetics (ACMG) Annual Clinical Genetics Meeting

Phoenix, AZ

March 21-25, 2017

www.acmg.net

Clinical Laboratory Management Association (CLMA) KnowledgeLab

Nashville, TN

March 26-29, 2017

www.clma.org

American College of Physicians (ACP) Internal Medicine Meeting

San Diego, CA

March 30 – April 1, 2017

www.acponline.org

The Endocrine Society’s ENDO Annual Meeting

Orlando, FL

April 1-4, 2017

www.endocrine.org

American Association for Cancer Research (AACR) Annual Meeting

Washington, DC

April 1-5, 2017

www.aacr.org

American Chemical Society (ACS) National Meeting & Exposition

San Francisco, CA

April 2-6, 2017

www.acs.org

American Society for Biochemistry & Molecular Biology (ASBMB) Annual Meeting

Chicago, IL

April 22-26, 2017

www.asbmb.org

American Society for Investigative Pathology (ASIP) Annual Meeting at Experimental Biology

Chicago, IL

April 22-26, 2017

www.asip.org

American Transplant Congress (ATC)

Chicago, IL

April 29 – May 3, 2017

www.atcmeeting.org

Cambridge Healthtech Institute’s 7th Annual Biomarker World Congress 2011

Philadelphia, PA

May 2-4, 2017

www.biomarkerworldcongress. com

American Association of Clinical Endocrinologists (AACE) Annual Meeting and Clinical Congress

Austin, TX

May 3-26, 2017

www.aace.com

5th Quadrennial Meeting of the World Federation of Neuro-Oncology Societies (WFNOS)

Zurich, Switzerland

May 4-7, 2017

https://www.eano.eu/wfnos2017-meeting/welcome/

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Meeting/Workshop Announcements Meeting

Location

Dates

Website

American Gastroenterological Association (AGA) Digestive Disease Week (DDW)

Chicago, IL

May 6-9, 2017

www.ddw.org www.gastro.org

Pediatric Academic Society (PAS) and Asian Society for Pediatric Research (ASPR) Joint Meeting

San Francisco, CA

May 6-9, 2017

www.pas-meeting.org

Clinical Virology Symposium & Annual Meeting of the Pan American Society for Clinical Virology

Savannah, GA

May 7-10, 2017

www.clinicalvirologysymposium. org

American Association of Immunologists (AAI) Annual Meeting

Washington, DC

May 12-16, 2017

www.aai.org

American Urological Association (AUA) Annual Meeting

Boston, MA

May 12-16, 2017

www.aua2017.org

American Association of Bioanalysts (AAB) Annual Meeting and Educational Conference/CRB Symposium

Houston, TX

May 18-20, 2017

www.aab.org

American Geriatrics Society (AGS) Annual Scientific Meeting

San Antonio, TX

May 18-20, 2017

www.americangeriatrics.org

International Society for Antiviral Research (ISAR) Antiviral Conference on Antiviral Research (ICAR)

Atlanta, GA

May 21-25, 2017

www.isar-icar.com

Bio-IT World (Cambridge Health Tech Institute)

Boston, MA

May 23-25, 2017

www.healthtech.com www.bio-itworldexpo.com

American Society of Clinical Oncology (ASCO) Annual Meeting

Chicago, IL

June 2-6, 2017

www.asco.org

American Society for Mass Spectrometry (ASMS) Annual Conference

Indianapolis, IN

June 4-8, 2017

www.asms.org

Cambridge Healthtech Institute (CHI) World Preclinical Congress

Boston, MA

June 13-15, 2017

www.healthtech.com

International Aids Society (IAS) Conference

Paris France

July 2017

www.iasociety.org

European Society of Human Reproduction & Embryology (ESHRE) Annual Meeting

Geneva, Switzerland

July 2-5, 2017

www.eshre.com

American Association for Clinical Chemistry (AACC)’s Annual Meeting

San Diego, CA

July 30 – August 3, 2017

www.aacc.org

American Society of Clinical Laboratory Science (ASCLS) Annual Meeting

San Diego, CA

July 30 – August 4, 2017

www.ascls.org

Society for Inherited Metabolic Disorders (SIMD) Annual Meeting

Rio de Janeiro, Brazil

September 5-8, 2017

www.simd.org

International Congress of Pediatric Laboratory Medicine (ICPLM)

Durban, South Africa

October 20-22, 2017

www.icplm2017.org

American Chemical Society (ACS) National Meeting & Exposition

New Orleans, LA

March 18-22, 2018

portal.acs.org

American Association for Cancer Research (AACR) Annual Meeting

Chicago, IL

April 14-18, 2018

www.aacr.org

International Union of Basic and Clinical Pharmacology (IUPHAR) World Congress of Basic and Clinical Pharmacology

Kyoto, Japan

July TBD, 2018

www.iuphar.org

American Chemical Society (ACS) National Meeting & Exposition

Boston, MA

August 19-23, 2018

portal.acs.org

American Association of Blood Banks (AABB) Annual Meeting & CTTXPO

Boston, MA

October 13-16, 2018

www.aabb.org

American Society of Human Genetics (ASHG) Annual Meeting

San Diego, CA

October 16-20, 2018

www.ashg.org

2018

Job placement ads are online at http://www.AGT-info.org The Journal of the Association of Genetic Technologists 42 (4) 2016

217

Regular Members. Regular membership shall be available to persons who are professionally interested in the field of genetics.

New Membership Application Please check the appropriate membership category. If you are applying for a collaborative membership, please indicate the related organization and your member ID number:

 Regular Membership  Student Membership  Emeritus Membership

$95 $35 $40

 Collaborative

$40 Organization:________________________ Member ID: ________________________

Student Members. Student membership shall be available to persons who are pursuing a full or part-time course of study at an educational institution or school and who are interested in pursuing a career in the field of genetics.

Emeritus Members. Emeritus membership shall be available to persons who are retired from or inactive in the field of genetics.

Collaborative Members. Collaborative membership shall be available to persons who currently hold membership in any other health-related national organization and who have never been members of ACT/AGT.

Recruited by: ______________________________________ Member ID: _____________ Name: ________________________________________________________________________________________________________________ Last

First

MI

Certification

 Home Address: _______________________________________________________________________________________________________ City, State, Zip: ___________________________________________________________________ Phone:______________________________

 Business Name: _______________________________________________________________________________________________________ Business Address: _____________________________________________________________________________________________________ City, State, Zip: ___________________________________________________________________ Phone:______________________________ Fax:______________________________ Preferred Email: ___________________________________________________________________

The supplied address will be published in the directory unless otherwise specified.  Do not provide my address in the online AGT Membership Directory.

Membership Status:

 New Member

[NOTE: Submission and acceptance of this membership application authorizes the AGT Executive Office the right and privilege to email you as a member. AGT does not sell or distribute in any other manner its member email address list.]

 Renewal

Referred By_____________________________________________________________________ Membership # ___________________________ Did you use a different name last year:

 Yes

 No

Former Last Name________________________________________ First Name________________________________ MI __________________

Position: (check one)

 Director  Head (Lead, Core) Technologist

 Supervisor  Technologist  Tissue Culture Tech.  Education Coordinator

 Lab Manager  Other

 Biochemical  Cytogenetics  Molecular  Other Appropriate years experience in Genetics:  under 2  2-4  5-7  8-10  11-15  16-20  21-30 Principal area of Genetics: (check one)

 over 30

NOTICE: OUR MAILING LIST IS MADE AVAILABLE TO OTHER ORGANIZATIONS AND/OR COMPANIES. IF YOU WISH YOUR NAME NOT TO APPEAR ON THESE LISTINGS, PLEASE CHECK HERE: 

Journal Hard Copy Order: Although The Journal of Genetic Technologists is available online to ALL MEMBERS, only North American members can elect to receive a hard copy via regular mail for an additional fee of $100. This fee covers four issues. If you are a North American resident and would like a hard copy of the Journal, please remit the additional fee with your membership application by checking the box and adding the amount to your total payment.  $100 Please note: AGT does not accept purchase orders and does not bill/invoice for services.

Mail application form and appropriate fee for membership in correct U.S currency. Money order or check in U.S. funds drawn on a U.S. bank only. CHECKS DRAWN ON INTERNATIONAL BANKS WILL NOT BE ACCEPTED. Make checks payable to Association of Genetic Technologists. For your convenience, you may pay by credit card. Applications received after September 15 are applied toward the next membership year. NOTE: Membership expires on December 31 of each year.

 VISA  MasterCard  AMEX  Discover

_______________________________________________________________ Account No. Exp. Date _______________________________________________________________ Signature

MAIL APPLICATION AND FEE TO: Association of Genetic Technologists 4400 College Blvd, Suite 220 Overland Park, KS 66211 Phone: 913-222-8665 FAX: 913-222-8606 9/16

The Journal of the Association of Genetic Technologists The Journal of the Association of Genetic Technologists is a peer-reviewed journal, and scientific materials for publication containing original research will be reviewed by independent referees. Manuscripts that require revision or that contain major editorial changes will be returned to the senior author of the article. Materials submitted will not be retained following publication nor will photographs, disks, or hard copies of manuscripts be returned to authors. Rejected manuscripts will not normally be returned, although an effort will be made to return original photographs and prints.

Manuscript content is the responsibility of the author(s). All articles published, including editorials, letters, book reviews, invited articles, Brain Ticklers, columns, and reviews, represent the opinions of the authors and do not reflect the official policy of AGT or the institution with which the author is affiliated unless specified by the author. AGT, its members, and the editor of The Journal of the Association of Genetic Technologists make no warranty and assume no liability with respect to the information contained herein.

Information For Authors The Journal of the Association of Genetic Technologists is pleased to consider manuscripts that describe experience with cytogenetics, molecular genetics, or biochemical genetics and the application of these disciplines.

Submitted manuscripts must be typed, preferably double-spaced, using a 12 point font and 1” margins. In addition to the original, three copies of the manuscript and camera-ready illustrations must be submitted to the editor-in-chief. Items to be italicized or enhanced (bold, underlined) should be clearly indicated. The conversion factor for print equivalency is as follows: two double-spaced typed pages equal approximately a one-half typeset page.

Authors may supply the material on a 3½” disk, preferably in Microsoft Word, WordPerfect, or ASCII format, along with the hard copy. Macintosh disks are also acceptable, but conversion costs will be assessed accordingly to AGT and a delay in processing may occur. Materials may alternatively be supplied to the editor via email at the address shown on inside front cover. Email submission is preferred.

Illustrations must be original photographs, computer-generated digitized files (preferably saved as a .tif, .eps, or .bmp file), or black and white line drawings, professionally prepared. The cost of separating and printing color photographs or illustrations will be charged to the author. Photographs must be properly identified on the back, including the author’s name, title of article, and top direction. A ball point pen should not be used for labeling. The affixing of a typewritten label to the illustration or table will prevent damage.

Notation & References Authors’ titles must be accompanied by a position description of less than 15 words, which will be printed with the article.

Textual citations to the referenced literature should be parenthetically noted by author’s surname followed by year of publication, and arranged chronologically and then alphabetically, as demonstrated in the following example: (Lese and Ledbetter, 1998; Reilly, 1998a; Morgan et al., 1999).

In situations with more than two authors, the first author’s surname should be followed with et al. When references are made to more than one paper published in the same year by the same author, a lower case a, b, etc. should be appended to the date of publication and should be included in both textual citations and the reference list.

References should be listed completely at the end of the paper in alphabetical order by surname of first author, and then by year of publication.

When more than one publication appears with the same first author, listings will be alphabetized by the first varying co-author. Irrespective of the number of authors, et al. should not be used in the reference list. Journal titles should be abbreviated according to Index Medicus and book titles should be italicized. Use the following format for references: Journal Article Brothman AR, Zhu XL, Maxell T, Cui J, Derbler DA. Advances in the cytogenetics of prostate cancer. J Assoc Genet Technol. 1999;25(1):1-6.

Book Chapter Barch MJ and Lawce HJ. The cell and cell division. In: Barch MJ, Knutsen T, Spurbeck JL (eds). The AGT Cytogenetics Laboratory Manual, 3rd ed. Philadelphia: Lippincott-Raven; 1997:1-18.

Book Mark HFL. Medical Cytogenetics. New York: Marcel Dekker; 2000.

All references should be complete. Accuracy is the responsibility of the authors. Only published articles and those in press may be included in the reference list. If necessary, unpublished data and submitted manuscripts should be cited parenthetically within the text.

Reprint Orders Reprints of articles can be purchased by authors at cost within two years after publication. On the order request, specify the journal’s volume and issue numbers, year of publication, page numbers, article title, author(s), and quantity requested. Include the contact name(s), address(es) and phone number(s) to be used for either shipping purposes or related questions. Payment should accompany the order. Checks must be made payable to AGT. Minimum order is 50 copies.

Reprints are produced on 60# white offset paper, saddle-stitched (unless under four pages), and will appear exactly as they do in the journal.

Price is based on article length, quantity ordered, and color requirements. Orders are not processed until payment is received. Once payment is received, allow four weeks for printing and shipping. Prices quoted include shipping by UPS ground; expedited shipping is available at an additional charge. Journal copies can be purchased by AGT members for $5/each and by non-members for $25/each, if copies are available.

Please forward reprint orders or questions regarding price quotations to the AGT Executive Office (see inside front cover for address).

ISSN 1523-7834