title: Clinical relevance of cytogenetics in myelodysplastic syndromes.
abstract: Myelodysplastic syndromes (MDS) are a group of heterogeneous stem cell disorders with different clinical behaviors and outcomes. Conventional cytogenetics (CC) studies have demonstrated that the majority of MDS patients harbor clonal chromosome defects. The probability of discovering a chromosomal abnormality has been increased by fluorescence in situ hybridization (FISH), which has revealed that about 15% of patients with a normal chromosome pattern on CC may instead present cryptic defects. Cytogenetic abnormalities, except for the interstitial long-arm deletion of chromosome 5 (5q-), are not specific for any French-American-British (FAB)/World Health Organization (WHO) MDS subtypes, demonstrate the clonality of the disease, and identify peculiar morphological entities, thus confirming clinical diagnosis. In addition, chromosome abnormalities are independent prognostic factors predicting overall survival and the likelihood of progression in acute myeloid leukemia.
authors.affiliation: Department of Blood, Heart and Lung Medical Sciences of the University of Pavia and Division of Hematology, Fondazione Policlinico San Matteo IRCCS, Pavia, Italy. p.bernasconi@smatteo.pv.it
authors.forename: Paolo
authors.initials: P
authors.lastname: Bernasconi
authors.forename: Marina
authors.initials: M
authors.lastname: Boni
authors.forename: Paola Maria
authors.initials: PM
authors.lastname: Cavigliano
authors.forename: Silvia
authors.initials: S
authors.lastname: Calatroni
authors.forename: Ilaria
authors.initials: I
authors.lastname: Giardini
authors.forename: Barbara
authors.initials: B
authors.lastname: Rocca
authors.forename: Rita
authors.initials: R
authors.lastname: Zappatore
authors.forename: Irene
authors.initials: I
authors.lastname: Dambruoso
authors.forename: Marilena
authors.initials: M
authors.lastname: Caresana
mesh_terms: D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics* / Q000648:ultrastructure; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics* / Q000648:ultrastructure; D003582:Cytogenetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009190:Myelodysplastic Syndromes / Q000175:diagnosis* / Q000401:mortality* / Q000473:pathology; D011379:Prognosis