Cytogenetic Studies

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

Risk-stratification systems
- International Prognostic Scoring System (IPSS); used only at diagnosis
- WHO classification-based Prognostic Scoring System (WPSS); used at any time during the disease course
- MD Anderson Cancer Center (MDACC); used at any time over the disease course

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

Probes Manufacturer Website
Multiprobe MDS/AML panel Cytocell
5/5q, 7/7q, 8cen, 20q Genzyme Genetics
5p/q, 7q, 17p13, 20q13 Kreatech
5p/q, 7cen/q, 8cen, 17p13, 20q13, Ycen Abbott Molecular
5/5q, 7/7q, 20q MetaSystems


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  1. Haase D. Cytogenetic features in myelodysplastic syndromes. Ann Hematol. 2008;87(7):515-526.
  2. 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.
  3. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: Myelodysplastic Syndromes (Version 2.2015). 2015.