Pathology of myelodysplastic syndromes

Haema 2011; 2(2): 187-192

by Helen P. Kourea,1, Anna Tasidou2

1University of Patras Medical School, University Hospital, Department of Pathology, 2Department of Haemopathology, Evaggelismos General Hospital of Athens

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The bone marrow biopsy (BMB) is an indispensable parameter in the evaluation of patients with myelodysplastic syndrome (MDS), in conjunction with the clinical presentation, the peripheral blood and bone marrow aspirate data as well as the results of the cytogenetic analysis. The BMB allows for the recognition of morphological characteristics of MDS, such as myelodysplastic features of megakaryocytes (MK) and to a lesser extent of the erythroid and myeloid series, evaluation of the percentage of blasts, recognition of abnormal localization of immature precursors (ALIP) and the presence of bone marrow fibrosis. The BMB is particularly useful in hypoplastic states of the bone marrow, where it allows for the differential diagnosis between hypoplastic MDS, aplastic anemia and hypoplastic acute leukemia. In a patient with cytopenia(s) and “dry tap” due to bone marrow fibrosis, BMB is, often, the only source of information regarding the cellular composition of the marrow. The morphologic findings in conbination with the use of immunohistochemistry or other special stains in these patients allows for the distinction between MDS and myeloid, lymphoid, non-hematopoietic neoplasms or non-neoplastic diseases. On the other hand recognition of dysplastic features in BMB, is not always diagnostic of primary MDS. The differential diagnosis from causes of secondary dysplasia is rendered through retrieval of clinical information in the patient’s medical history and in conjunction with other clinical and laboratory findings. BMB provides important prognostic information such as the percentage of blasts, the presence of ALIP, the presence of clusters of CD34+ cells and the development of bone marrow fibrosis. The BMB provides ample material for the study of other parameters, such as the angiogenesis. In the era of targeted therapies, BMB will likely provide the material for the study and identification of factors predictive of response to these therapies.