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The myelodysplastic syndromes (MDS) are preleukemic diseases of elderly patients characterized by defective maturation of clonal hematopoietic progenitor cells resulting in peripheral blood cytopenias. Clonal chromosomal abnormalities are heterogeneous and can be detected in less than 50% of patients with de novo MDS and more frequently in secondary MDS (up to 80%). The karyotype plays an important role in the pathogenesis, diagnosis, and prognosis to evaluate the risk of leukemic transformation and, more recently, in treatment allocation. The gold standard for cytogenetic diagnosis in MDS is conventional chromosome banding analyses of bone marrow metaphases. The most frequent abnormalities are deletions and losses of chromosomes 5 (-5/5q-) and 7 (-7/7q-) and various isolated or combined abnormalities. Fluorescent in situ hybridization and array comparative genomic hybridization can reveal cryptic genetic abnormalities but are not recommended in routine diagnosis. New techniques including next generation sequencing revealed somatic driver mutations especially those affecting genes involved in RNA splicing or those harboring important prognostic value (TP53, ASXL1…) with potential applications in clinical practice in the future.

Les syndromes myelodysplasiques (SMD) sont des affections clonales des cellules souches pluripotentes, caracterisees par une hematopoiese inefficace, responsable de cytopenies sanguines qui contrastent avec une moelle generalement riche. De plus, les SMD evoluent frequemment en leucemie aigue myeloide (LAM) et constituent les plus frequents des etats preleucemiques de l’adulte.Les SMD predominent chez le sujet âge, avec une mediane d’âge au diagnostic de l’ordre de 70 [...]

hma.2012.0744 Auteur(s) : Therese Aurrant, Evelyne Callet-Bauchu, Florence Cymbalista, Alain Delmer, Brigitte Dreyfus, Florence Nguyen Khac, Veronique Leblond, Stephane Lepretre, Vincent Levy, Sophie Raynaud, Xavier Troussard1 troussard-x@chu-caen.fr Pour l’intergroupe GCFLLC/MW/GOELAMS 1 Laboratoire d’hematologie, CHU de Caen, France Tires a part : X. Troussard Incidence La leucemie lymphoide chronique (LLC) est la plus frequente des leucemies de l’adulte. Avec 3 800 nouveaux [...]