Difference between revisions of "Cytogenetic tests"
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Findings: | Findings: | ||
*5q deletion seen in myelodysplastic syndromes.<ref>{{Cite journal | last1 = Nimer | first1 = SD. | title = Clinical management of myelodysplastic syndromes with interstitial deletion of chromosome 5q. | journal = J Clin Oncol | volume = 24 | issue = 16 | pages = 2576-82 | month = Jun | year = 2006 | doi = 10.1200/JCO.2005.03.6715 | PMID = 16735711 }} | *5q deletion seen in [[myelodysplastic syndromes]].<ref>{{Cite journal | last1 = Nimer | first1 = SD. | title = Clinical management of myelodysplastic syndromes with interstitial deletion of chromosome 5q. | journal = J Clin Oncol | volume = 24 | issue = 16 | pages = 2576-82 | month = Jun | year = 2006 | doi = 10.1200/JCO.2005.03.6715 | PMID = 16735711 }} | ||
</ref> | </ref> | ||
*Y deletion in [[MDS]]<ref name=pmid21269692>{{Cite journal | last1 = Mallo | first1 = M. | last2 = Luño | first2 = E. | last3 = Sanzo | first3 = C. | last4 = Cervera | first4 = J. | last5 = Haase | first5 = D. | last6 = Schanz | first6 = J. | last7 = García-Manero | first7 = G. | last8 = Del Cañizo | first8 = C. | last9 = Sanz | first9 = GF. | title = Clinical impact of the clone size in MDS cases with monosomy 7 or 7q deletion, trisomy 8, 20q deletion and loss of Y chromosome. | journal = Leuk Res | volume = | issue = | pages = | month = Jan | year = 2011 | doi = 10.1016/j.leukres.2011.01.003 | PMID = 21269692 }} | *Y deletion in [[MDS]]<ref name=pmid21269692>{{Cite journal | last1 = Mallo | first1 = M. | last2 = Luño | first2 = E. | last3 = Sanzo | first3 = C. | last4 = Cervera | first4 = J. | last5 = Haase | first5 = D. | last6 = Schanz | first6 = J. | last7 = García-Manero | first7 = G. | last8 = Del Cañizo | first8 = C. | last9 = Sanz | first9 = GF. | title = Clinical impact of the clone size in MDS cases with monosomy 7 or 7q deletion, trisomy 8, 20q deletion and loss of Y chromosome. | journal = Leuk Res | volume = | issue = | pages = | month = Jan | year = 2011 | doi = 10.1016/j.leukres.2011.01.003 | PMID = 21269692 }} | ||
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|- | |- | ||
| BCR/ABL1 | | BCR/ABL1 | ||
| CML or ALL | | [[CML]] or ALL | ||
| Tx | | Tx: [[imatinib]] | ||
|- | |- | ||
| MLL | | MLL<ref>{{OMIM|159555}}</ref> | ||
| ALL or AML | | ALL or AML | ||
| rearrangment --> marker of poor prognosis<ref>{{Cite journal | last1 = Liedtke | first1 = M. | last2 = Cleary | first2 = ML. | title = Therapeutic targeting of MLL. | journal = Blood | volume = 113 | issue = 24 | pages = 6061-8 | month = Jun | year = 2009 | doi = 10.1182/blood-2008-12-197061 | PMID = 19289854 }} | | rearrangment --> marker of poor prognosis<ref>{{Cite journal | last1 = Liedtke | first1 = M. | last2 = Cleary | first2 = ML. | title = Therapeutic targeting of MLL. | journal = Blood | volume = 113 | issue = 24 | pages = 6061-8 | month = Jun | year = 2009 | doi = 10.1182/blood-2008-12-197061 | PMID = 19289854 }} | ||
| Line 43: | Line 43: | ||
| BCL2 | | BCL2 | ||
| [[follicular lymphoma]] | | [[follicular lymphoma]] | ||
| | | t(14;18)(q32;q21)<ref name=pmid21192062>{{Cite journal | last1 = Yanai | first1 = S. | last2 = Nakamura | first2 = S. | last3 = Takeshita | first3 = M. | last4 = Fujita | first4 = K. | last5 = Hirahashi | first5 = M. | last6 = Kawasaki | first6 = K. | last7 = Kurahara | first7 = K. | last8 = Sakai | first8 = Y. | last9 = Matsumoto | first9 = T. | title = Translocation t(14;18)/IGH-BCL2 in gastrointestinal follicular lymphoma: correlation with clinicopathologic features in 48 patients. | journal = Cancer | volume = | issue = | pages = | month = Dec | year = 2010 | doi = 10.1002/cncr.25811 | PMID = 21192062 }}</ref> | ||
|- | |- | ||
| ERBB2 (HER2) | | ERBB2 (HER2) | ||
| [[breast cancer]] | | [[breast cancer]] | ||
| prognostic, Tx (trastuzumab) | | prognostic, Tx ([[trastuzumab]]) | ||
|- | |- | ||
| EWSR1 | | EWSR1 | ||
Latest revision as of 17:09, 14 January 2012
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.