Cytogenetic tests
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Thsi article is a list of common cytogenetic tests. An introduction to cytogenetics is in the cytogenetics article.
Karyotyping
Findings:
- 5q deletion seen in myelodysplastic syndromes.[1]
- Y deletion in MDS[2] - relatively common in old men.
ISH
Cytogenetic tests at one hospital:[3]
| Test | Parameters | Notes |
|---|---|---|
| BCR/ABL1 | CML or ALL | Tx: imatinib |
| MLL[4] | ALL or AML | rearrangment --> marker of poor prognosis[5] |
| MYC | Burkitt's lymphoma + others | prognostic |
| ALK | DLBCL - BCL6, BCL2 or MYC | ? |
| MALT1 | MALT lymphoma | trisomy 3, trisomy 18 |
| CCND1 | mantle cell lymphoma | ? |
| BCL2 | follicular lymphoma | t(14;18)(q32;q21)[6] |
| ERBB2 (HER2) | breast cancer | prognostic, Tx (trastuzumab) |
| EWSR1 | small round blue cell tumour (suspected Ewing sarcoma) |
See also
References
- ↑ Nimer, SD. (Jun 2006). "Clinical management of myelodysplastic syndromes with interstitial deletion of chromosome 5q.". J Clin Oncol 24 (16): 2576-82. doi:10.1200/JCO.2005.03.6715. PMID 16735711.
- ↑ Mallo, M.; Luño, E.; Sanzo, C.; Cervera, J.; Haase, D.; Schanz, J.; García-Manero, G.; Del Cañizo, C. et al. (Jan 2011). "Clinical impact of the clone size in MDS cases with monosomy 7 or 7q deletion, trisomy 8, 20q deletion and loss of Y chromosome.". Leuk Res. doi:10.1016/j.leukres.2011.01.003. PMID 21269692.
- ↑ Kamel-Reid, Suzanne. University Health Network / Department of Pathology. Cancer Cytogenetics & Molecular Diagnostics Laboratories. Test Requisition. August 2010.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 159555
- ↑ Liedtke, M.; Cleary, ML. (Jun 2009). "Therapeutic targeting of MLL.". Blood 113 (24): 6061-8. doi:10.1182/blood-2008-12-197061. PMID 19289854.
- ↑ Yanai, S.; Nakamura, S.; Takeshita, M.; Fujita, K.; Hirahashi, M.; Kawasaki, K.; Kurahara, K.; Sakai, Y. et al. (Dec 2010). "Translocation t(14;18)/IGH-BCL2 in gastrointestinal follicular lymphoma: correlation with clinicopathologic features in 48 patients.". Cancer. doi:10.1002/cncr.25811. PMID 21192062.