Molecular cytogenetic analysis of RB-1 deletions in chronic B-cell leukemias

Leuk Lymphoma. 1994 Dec;16(1-2):97-103. doi: 10.3109/10428199409114145.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • Chromosome Aberrations
  • Chromosome Banding
  • Chromosomes, Human, Pair 1
  • Chromosomes, Human, Pair 13
  • Female
  • Gene Deletion*
  • Genes, Retinoblastoma*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Interphase
  • Leukemia, B-Cell / genetics*
  • Leukemia, Hairy Cell / genetics*
  • Leukemia, Lymphocytic, Chronic, B-Cell / genetics*
  • Leukemia, Prolymphocytic / genetics*
  • Male
  • Metaphase
  • Middle Aged
  • Translocation, Genetic