MDS is a heterogeneous group of slowly or rapidly progressive hematological malignancies that predispose the individual to acute leukemia. MDSs are caused by a mutation(s) at the multipotent stem cell level. Some cases are due to chemotherapy with alkylating agents or topoisomerase II inhibitors. MDS is characterized by dysplastic cytopenias and the clinical features depend on which cytopenias are present. Apoptosis is one mechanism of ineffective hematopoiesis. MDS are becoming thought of as part of a spectrum of diseases which include AML, PNH and aplastic anemia. There is speculation about the role of the immune system in the pathogenesis of MDS, and an increasing appreciation of the interactions between the malignant clone and the microenvironment in disease progression. Treatment is generally unsatisfactory but exciting responses have been documented in about 15% of cases with a variety of biologically interesting agents.
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