Le sindromi mielodisplastiche: diagnosi, prognosi e terapia

The authors conducted a systematic review of the medical literature published in the past 15 years on the myelodysplastic syndromes (MDSs). The MDSs are typically seen in the elderly, and primary and secondary forms can be distinguished. This heterogeneous group of hematologic diseases is caused by clonal disorders of pluripotent hematopoietic stem cells. The pathogenesis of the syndromes appears to be multifactorial. Genetic damage, spontaneous or induced by environmental or iatrogenic factors, leads to abnormal proliferation and apoptosis of bone marrow stem cells. The most common presentation is anemia, alone or associated with thrombocytopenia and / or neutropenia, accompanied by the related symptoms and clinical signs (asthenia, fatigue, bleeding, recurrent infections). The diagnosis involves the exclusion of other causes of cytopenia and is based on well-defined, internationally recognized criteria, which are mainly morphologic and cytogenetic. Accurate diagnosis of MDS is essential for prognostic evaluation and for estimating the risk of progression to acute myeloid leukemia (AML). The risk is rated according to the International Prognostic Scoring System (IPSS), which includes 4 levels (low, intermediate-1, intermediate-2, and high). The risk class is a major determinant of the therapeutic approach. Apart from supportive care (transfusions), the main therapeutic tools are erythropoiesis-stimulating agents (ESAs), iron-chelating agents, immunomodulatory drugs, demethylating agents and, in selected cases, allogeneic bone marrow transplantation.