Cytogenetic Diagnosis of Myelodysplastic Syndromes

The cytogenetic evaluation of a bone marrow sample from patients with a myelodysplastic syndrome (MDS) is an integral part of clinical care. This analysis not only confirms the diagnosis, but it is invaluable in defining the prognosis and median survival, as well as establishing the risk for progression to an acute myeloid leukemia (AML). On a more fundamental level, cytogenetic analysis has been instrumental in confirming the clonality of these syndromes as well as providing hints into the pathobiology of these entities. This chapter will review the most frequently encountered abnormalities exploring their clinical and genetic features, as well as the techniques of cytogenetic analysis and their applications in MDS.