title: Molecular cytogenetic analysis of RB-1 deletions in chronic B-cell leukemias.
abstract: Deletions or translocations of 13q, most commonly involving band 13q14, belong to the most frequent structural chromosome abnormalities in B-cell chronic lymphocytic leukemia (B-CLL). In a combined metaphase and interphase cytogenetic study using conventional G-banding analysis and fluorescence in situ hybridization (ISH) we previously analysed the retinoblastoma susceptibility gene (RB-1) and its chromosomal locus 13q14 in 35 patients with chronic B-cell leukemias. We report here on the interphase cytogenetic analysis of 109 cases with chronic B-cell leukemias [B-CLL = 90; B-prolymphocytic leukemia (B-PLL) = 6, hairy cell leukemia (HCL) = 13]; a subset of 49 patients (B-CLL = 45; B-PLL = 4) was studied by conventional G-banding analysis. By G-banding, 5/45 (11%) patients with B-CLL had deletions or translocations affecting band 13q14; in contrast, ISH to interphase cells showed RB-1 deletion in 19/90 (21%) patients with B-CLL. No 13q14 abnormalities or RB-1 deletion were detected in patients with B-PLL and HCL. Our data confirm the high frequency of RB-1 deletions in B-CLL and further emphasize the possible pathogenetic role of this genomic region.
authors.affiliation: Medizinische Klinik und Poliklinik V, Universität Heidelberg, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Döhner
authors.forename: T
authors.initials: T
authors.lastname: Pilz
authors.forename: K
authors.initials: K
authors.lastname: Fischer
authors.forename: G
authors.initials: G
authors.lastname: Cabot
authors.forename: D
authors.initials: D
authors.lastname: Diehl
authors.forename: T
authors.initials: T
authors.lastname: Fink
authors.forename: S
authors.initials: S
authors.lastname: Stilgenbauer
authors.forename: M
authors.initials: M
authors.lastname: Bentz
authors.forename: P
authors.initials: P
authors.lastname: Lichter
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1; D002882:Chromosomes, Human, Pair 13; D005260:Female; D017353:Gene Deletion; D016161:Genes, Retinoblastoma; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007399:Interphase; D015448:Leukemia, B-Cell / Q000235:genetics*; D007943:Leukemia, Hairy Cell / Q000235:genetics*; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*; D015463:Leukemia, Prolymphocytic / Q000235:genetics*; D008297:Male; D008677:Metaphase; D008875:Middle Aged; D014178:Translocation, Genetic