Cytogenetics and myelodysplastic syndromes
Cytogenetic abnormalities are common in MDS: in particular unbalanced abnormalities in the form of deletions and monosomies.1 Increasingly, cytogenetics has been demonstrated to contribute to prognosis ascertainment1 and accordingly World Health Organization guidelines state that all patients should undergo bone marrow cytogenetic analysis at diagnosis and, if normal, may require further cytogenetic assessment to identify changes as treatment progresses.2
Established approaches include karyotyping and fluorescent in situ hybridization (FISH). Cytogenetic response or progression may precipitate review of therapeutic options.3
Cytogenetic findings are components of several risk stratification tools (Box 1).
Box 1: Risk stratification in MDS
Panels of fluorescent in situ hybridization (FISH) probes have been developed specifically for myelodysplastic syndromes (MDS) that can be used for initial diagnosis (Box 2).
Box 2: Commercially available FISH assays for diagnosis of MDS
|Multiprobe MDS/AML panel||Cytocell||www.cytocell.com|
|5/5q, 7/7q, 8cen, 20q||Genzyme Genetics||www.genzymegenetics.com|
|5p/q, 7q, 17p13, 20q13||Kreatech||www.kreatech.com|
|5p/q, 7cen/q, 8cen, 17p13, 20q13, Ycen||Abbott Molecular||www.abbottmolecular.com|
|5/5q, 7/7q, 20q||MetaSystems||www.metasystems-international.com|
- Haase D. Cytogenetic features in myelodysplastic syndromes. Ann Hematol. 2008;87(7):515-526.
- Vardiman JW, Thiele J, Arber DA, et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood. 2009;114(5):937-951.
- National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: Myelodysplastic Syndromes (Version 2.2015). 2015.