title: Hidden chromosomal aberrations are rare in primary myelodysplastic syndromes with evolution to acute myeloid leukaemia and normal cytogenetics.
abstract: In myelodysplastic syndromes (MDS) a normal karyotype by cytogenetic analysis (CA) corresponds to a low cytogenetic risk for acute myeloid leukaemia (AML) evolution, a subset of patients however develops AML. We evaluated the use of interphase fluorescence in situ hybridisation (I-FISH) in 31 patients with evolution from primary MDS to AML and a normal CA at all stages of disease. Monosomy 7 was found in 4/31 cases, one patient had a terminal deletion 5q, each after AML evolution. The low frequency and unclear prognostic value of I-FISH anomalies in MDS related AML suggests that these alterations play a minor role for AML evolution.
authors.affiliation: Institute of Human Genetics and Anthropology, Heinrich-Heine University, Universitätsstr. 1, 40225 Düsseldorf, Germany.
authors.forename: Detlef
authors.initials: D
authors.lastname: Trost
authors.forename: Barbara
authors.initials: B
authors.lastname: Hildebrandt
authors.forename: Nicola
authors.initials: N
authors.lastname: Müller
authors.forename: Ulrich
authors.initials: U
authors.lastname: Germing
authors.forename: Brigitte
authors.initials: B
authors.lastname: Royer-Pokora
mesh_terms: D000208:Acute Disease; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002471:Cell Transformation, Neoplastic / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D002897:Chromosomes, Human, Pair 7; D020732:Cytogenetic Analysis; D018450:Disease Progression; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015994:Incidence; D007951:Leukemia, Myeloid / Q000209:etiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009006:Monosomy; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000473:pathology; D011379:Prognosis