EDISCIENCES

ABSTRACT

Myelodysplastic syndromes (MDS) are an heterogeneous group of clonal diseases, characterized by cytopenia(s) in peripheral blood and an increased risk of progression into acute leukemia. Although myelodisplasia is the most frequent haematological tumor in elderly, it is frequently misdiagnosed or, at least, under-reported in disease registries. However, other diagnoses such as vitamin and/or iron defciency or toxic status have to be excluded. Several classifcation and prognostic systems have been used for MDS patients. Tese are based on clinical parameters, such as the number and level of cytopenias, morphological features, bone marrow examination and transfusional burden. Acquisition of cytogenetic and molecular data have improved both the disease biological basis understanding and its prognostication. In this respect the role of age, especially for low risk patients, remains critical. Recently clonal haematopoiesis, where somatic mutations of preleukemic genes are ofen involved, has been demonstrated in normal subjects and the frequency of this condition increases with age. This status is in accordance with the multi-step theory of cancer and represents a key risk factor to develop hematological tumors. Therapy of low risk MDS is mainly based on supportive care, such as erythropoietic stimulating agents (ESA) and/or transfusion of red blood cells (RBC) and/or platelets (PLT) while high risk patients are treated more aggres- sively either with demethylating agents or with bone marrow transplantation. The latter approach is precluded to elderly patients and to those with important comorbidities or a bad performance status.