title: Is monosomy 5 an uncommon aberration? Fluorescence in situ hybridization reveals translocations and deletions in myelodysplastic syndromes or acute myelocytic leukemia.
abstract: Acquired loss of material from chromosome 5 in bone marrow cells is common in myelodysplastic syndromes (MDS) and acute myelocytic leukemia (AML). In this study, we have applied fluorescence in situ hybridization (FISH) analyses with probes for the three regions 5p15.2, 5q31, 5q33-q34, and whole chromosome 5 painting probes (WCP 5) to investigate what further information could be gained regarding the cytogenetic abnormalities of chromosome 5 in 35 patients with MDS or AML. With FISH, a del(5q) was found in all patients except for two. Translocations of material from chromosome 5 were found in 10 patients. Among 16 patients with clones of monosomy 5 seen by cytogenetics, 14 had deletions or translocations. Different breakpoints on chromosome 5 were observed. In conclusion, the extended FISH analyses yielded additional information about chromosome 5 abnormalities in 60% of the patients. Of interest is the finding of a high proportion of translocations and that monosomy 5 occurs less often than is generally believed.
authors.affiliation: Department of Clinical Chemistry and Transfusion Medicine, Sahlgrenska University Hospital, Göteborg, Sweden.
authors.forename: Susanne
authors.initials: S
authors.lastname: Bram
authors.forename: Birgitta
authors.initials: B
authors.lastname: Swolin
authors.forename: Stig
authors.initials: S
authors.lastname: Rödjer
authors.forename: Dick
authors.initials: D
authors.lastname: Stockelberg
authors.forename: Inger
authors.initials: I
authors.lastname: Ogärd
authors.forename: Hans
authors.initials: H
authors.lastname: Bäck
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D020732:Cytogenetic Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009006:Monosomy / Q000235:genetics*; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*