chapter  3
38 Pages

The Cytogenetics and Molecular Biology of the Myelodysplastic Syndromes

ByHarold J. Olney, Michelle M. Le Beau

The myelodysplastic syndromes (MDS) include a heterogenous group of clonal bone marrow disorders characterized by the presence of dysplastic maturation of hematopoietic cells, coupled with one or more peripheral cytopenias and a propensity to progress to an acute leukemia (1,2). While cytologic dysplasia is the cardinal feature of MDS, there are a number of other conditions that can present a similar histopathologic picture: nutritional deficiencies (e.g., vitamin B12 and folate), toxins, infections, and congenital disorders must all be excluded. Therefore, documentation of a cytogenetically abnormal clone can provide important information in support of a diagnosis of MDS (3,4).