Avancées cytogénétiques dans les syndromes myélodysplasiques

Cytogenetic analyses in myelodysplastic syndromes (MDS) are complex and show profound heterogeneity. The most frequent rearrangements are gains or losses of genetic material, varying from patient to patient, and within the same patient. The prognostic value of these rearrangements has been extensively studied. It allowed the definition of a risk based classification system for MDS (the International Scoring System for evaluating Prognosis, IPSS), proven to be a highly useful method for evaluating prognosis in MDS patients. Recently, the impact on the natural course of the disease of some rare abnormalities was delineated on the basis of large international multicentric cooperations. Despite progress in mapping and characterization of minimally deleted chromosomal regions, primary critical genetic events remain to be determined. New analytical tools will add substantially to the understanding of pathogenesis. In the future, patients' care should benefit from the ability to combined these newly developed diagnostic tools with emerging therapies.