Cancer Genetics Italia 2013 DNA-FISH Probe Catalog www.cancergeneticsitalia.com
MDM2/D12S1837
CLL
The MDM2/D12S1837 DNA-FISH Probe is designed to detect both the polyploidy of chromosome 12 and the amplification of the MDM2 gene located on 12q14.3-q15 relative to the control locus D12S1837 located on 12p11 by fluorescence in situ hybridization (FISH). MDM2 is frequently amplified in many solid tumor, including soft tissue tumors. Well-differentiated liposarcomas has been found by molecular and cytogenetic studies to contain amplification of the 12q13-15 region, including the MDM2 gene.[1,2] Precise recognition of benign lipoma and well-differentiated liposarcoma by core needle biopsy can facilitate appropriate clinical management.[3] Trisomy of chromosome 12 (+12) is a commonly observed numerical aberration in non-Hodgkin lymphomas (NHL) cases. It has been observed in ~15-50% chronic lymphocytic leukemia (CLL) cases.[4] In CLL, trisomy 12, when observed as a sole abnormality, appears to have limited prognostic implications and is often associated with an atypical morphology, although it is only observed in a subset of tumor cells.[5]
12 D12S1837
MDM2
5’
telomere ~304 kb
3’
telomere
NHL
References
1. Weaver, J., et al. Modern Pathol, 2008. 21(8): p. 943-9. 2. Dal Cin, P., et al. Cancer Genetics and Cytogenetics, 1993. 68(2): p. 85-90. 3. Weaver, J., et al., Modern Pathol, 2010. 23(10): p. 85-90. 4. Heim, S., Mitelman F. (Ed) Cancer Cytogenetics, 2009 (3rd Edition). Wiley-Blackwell, New Jersey. P. 310. 5. Dohner, H., et al. J Mol Med, 1999. 77(2):p.266-81.
MDM2/D12S1837
Two Color, Enumeration Probe Ref: 14-017
~289 kb
MLL Break Apart
ALL
The MLL Break Apart probe is designed to detect the translocation involving the MLL gene on chromosome 11q23 using fluorescence in situ hybridization (FISH). At least 104 translocation partner genes have been identified. [1] Translocation of MLL is found in ~3-10% of acute lymphoblastic leukemia (ALL) cases, and in ~8-10% of acute myeloid leukemia (AML) cases, and is prognostically relevant in these leukemias.[2,3] However, the prognostic implication is dependent on the age and phenotype of the leukemia. MLL rearrangement has been observed in ~80% of infant ALL cases and is associated with a high risk in such cases and requires aggressive treatment. In AML, the prognosis is intermediate regardless of age. MLL translocations are also found in ~25% of patients with therapy-related leukemias, particularly following treatment with DNA topoisomerase II inhibitors and the prognosis in such patients is poor.[2,3] In addition to translocations, deletions of 3’ MLL and amplification of MLL also occurs in a subset of ALL and AML cases.[4,5]
11 MLL 11q23
5’
centromere ~770 kb
3’
References
AML
1. Meyer, C., et al., Leukemia, 2009. 23: 1490-9. 2. Coenen, E.A., et al., Blood, 2011. 117(26): 7102-11. 3. Chowdhury, T., et al. Blood Cells Mol Dis, 2008. 40:192-199. 4. Barber, K. E, et al. Genes Chromosomes Cancer, 2001. 41:226-271. 5. Andersen, M. K, et al. Genes Chromosomes Cancer, 2001. 31:33-41.
MLL Break Apart
Two Color, Break Apart Probe Ref: 11-002
telomere ~820 kb
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