chapter  9
32 Pages

Diagnosis of Myelodysplastic Syndromes: Criteria and Challenges

ByAttilio Orazi, James W. Vardiman

The diagnostic evaluation of myelodysplastic syndromes (MDS) includes morphologic evaluation of peripheral blood, marrow aspirate, and bone marrow biopsy specimens, which must be interpreted in the context of the complete blood count results and adequate clinical information (1-5). Correlation with marrow cytogenetic results (see chap. 3) is also essential. Importantly, the presence of a normal karyotype does not exclude a diagnosis of MDS. Conversely, an abnormal karyotype may indicate MDS within the appropriate clinical context, even if morphologic findings are inconclusive. In some clinical settings, FISH analysis as well as other techniques (e.g., spectral karyotyping) may also be successfully employed (see chaps. 3 and 4).