title: Cytogenetic and molecular diagnosis of chromosome 5 deletions in myelodysplasia.
abstract: Deletions of chromosome 5, del(5q), are frequently observed in myelodysplasia (MDS). We evaluated molecular detection of loss of heterozygosity (LOH) as a diagnostic method to detect del(5q) in a series of 60 MDS cases at a single institution. LOH was compared to cytogenetics on the same clinical specimen, resolving ambiguous cases by fluorescent in situ hybridization (FISH) and additional LOH. There was poor concordance between molecular and cytogenetic results, but most discrepancies could be resolved by FISH and additional LOH. Molecular analysis was of low sensitivity because most cases contained a relatively high proportion of cells without del(5q), but it was accurate, while cytogenetics overestimated the proportion of cells with del(5q) and failed to detect some cases with complex rearrangements. Minor clones were detected both by FISH and LOH. Overall, we found an incidence of 23% (14 of 60 cases) for del(5q) in MDS. The results also suggest that there is a high degree of genetic heterogeneity in the cellular population of MDS. Although del(5q) is common in MDS, it may not be present in all cells, leading to diagnostic challenges.
authors.affiliation: Section of Hematology/Oncology, Department of Medicine, University of Illinois at Chicago, 60607-7173, USA. cwcw@uic.edu
authors.forename: C A
authors.initials: CA
authors.lastname: Westbrook
authors.forename: W T
authors.initials: WT
authors.lastname: Hsu
authors.forename: B
authors.initials: B
authors.lastname: Chyna
authors.forename: D
authors.initials: D
authors.lastname: Litvak
authors.forename: A
authors.initials: A
authors.lastname: Raza
authors.forename: S K
authors.initials: SK
authors.lastname: Horrigan
mesh_terms: D000368:Aged; D000753:Anemia, Refractory / Q000235:genetics; D000754:Anemia, Refractory, with Excess of Blasts / Q000235:genetics; D000756:Anemia, Sideroblastic / Q000235:genetics; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015477:Leukemia, Myelomonocytic, Chronic / Q000235:genetics; D019656:Loss of Heterozygosity; D008297:Male; D018895:Microsatellite Repeats; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D016133:Polymerase Chain Reaction