Detection of E2A translocations in leukemias via fluorescence in situ hybridization

Leukemia. 2001 Jan;15(1):95-102. doi: 10.1038/sj.leu.2401988.

Abstract

Three rearrangements in ALL disrupt E2A and create E2A fusion proteins: the t(1;19)(q23;p13) and E2A-PBX1, t(17;19)(q22;p13) and E2A-HLF and a cryptic inv(19)(p13;q13) and E2A-FB1. While E2A is fused to PBX1 in most ALLs with a t(1;19), 5-10% of cases have translocations that appear identical, but do not affect E2A or PBX1. Because more intensive therapy improves the outcome of patients with E2A-PBX1positive (1;19) translocations, it is critical to identify this subset of patients so that appropriate therapy can be administered. In addition, there are balanced and unbalanced variants of the t(1;19) and controversy exists regarding the clinical significance of this distinction. We have developed a two-color fluorescence in situ hybridization assay that accurately detects E2A translocations in metaphase and interphase cells, distinguishes between balanced and unbalanced variants and identifies patients with a t(1;19) who lack E2A-PBX1 fusion. We found that clonal microheterogeneity is common in patients with E2A translocations and most patients have mixtures of cells with balanced and unbalanced translocations, suggesting that this distinction represents two ends of a continuum rather than distinct biological entities. These reagents should have widespread clinical utility and be useful for translational and basic research studies involving E2A translocations and this region of chromosome 19p13.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Basic Helix-Loop-Helix Transcription Factors
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 17*
  • Chromosomes, Human, Pair 19*
  • DNA-Binding Proteins / genetics
  • Homeodomain Proteins / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Leukemia / genetics*
  • Oncogene Proteins, Fusion / genetics
  • Transcription Factors / analysis
  • Transcription Factors / genetics*
  • Translocation, Genetic*
  • Tumor Cells, Cultured

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • DNA-Binding Proteins
  • E2a-Hlf fusion protein, human
  • Homeodomain Proteins
  • Oncogene Proteins, Fusion
  • TCF3 protein, human
  • Transcription Factors
  • E2A-Pbx1 fusion protein