Cytogenetic tests

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Thsi article is a list of common cytogenetic tests. An introduction to cytogenetics is in the cytogenetics article.




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
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


  1. 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.
  2. 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.
  3. Kamel-Reid, Suzanne. University Health Network / Department of Pathology. Cancer Cytogenetics & Molecular Diagnostics Laboratories. Test Requisition. August 2010.
  4. Online 'Mendelian Inheritance in Man' (OMIM) 159555
  5. Liedtke, M.; Cleary, ML. (Jun 2009). "Therapeutic targeting of MLL.". Blood 113 (24): 6061-8. doi:10.1182/blood-2008-12-197061. PMID 19289854.
  6. 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.