title: Cytogenetic place in managing myelodysplastic syndromes: an update by the Groupe francophone de cytogénétique hématologique (GFCH).
abstract: 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.
authors.affiliation: Laboratoire d'hématologie et de cytogénétique, Hôpital Avicenne, AP-HP, Bobigny, France.
authors.forename: Virginie
authors.initials: V
authors.lastname: Eclache
authors.affiliation: Département de génétique, Aix Marseille Université, APHM, Hôpital Timone, Marseille , France.
authors.forename: Marina
authors.initials: M
authors.lastname: Lafage-Pochitaloff
authors.affiliation: Laboratoire de cytogénétique onco-hématologique, Institut de biologie, CHU de Grenoble, France.
authors.forename: Christine
authors.initials: C
authors.lastname: Lefebvre
authors.affiliation: Laboratoire de génétique oncologique, Centre de lutte contre le cancer Henri Becquerel, Rouen, France.
authors.forename: Dominique
authors.initials: D
authors.lastname: Penther
authors.affiliation: Laboratoire d'oncohématologie, Hôpital Pasteur, Nice, France.
authors.forename: Sophie
authors.initials: S
authors.lastname: Raynaud
authors.affiliation: Laboratoire de cytogénétique et de biologie moléculaire, Service d'hématologie biologique, CBPAS, GHS, Hospices civils de Lyon, Pierre-Bénite, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Tigaud
mesh_terms: D055028:Comparative Genomic Hybridization; D020732:Cytogenetic Analysis / Q000379:methods / Q000592:standards / Q000706:statistics & numerical data*; D005602:France; D006405:Hematology / Q000458:organization & administration / Q000592:standards*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000628:therapy*; D012955:Societies, Medical / Q000592:standards
keywords: FISH; cytogenetic abnormalities; karyotype; myelodysplastic syndromes