Molecular variants of the 1;19 chromosomal translocation in pediatric acute lymphoblastic leukemia (ALL)

Leukemia. 1994 Apr;8(4):554-9.

Abstract

The t(1;19)(q23;p13), a non-random chromosome rearrangement associated with childhood pre-B acute lymphoblastic leukemia (ALL), results at molecular level in the hybrid E2A-PBX1 gene. This gene is expressed in a typical set of fusion transcripts and oncogenic chimeric proteins. However, the occurrence of t(1;19) molecular variants has been recently suggested. In an attempt to identify these variants, we analyzed 25 pediatric cases of pre-B cIg+ cell ALL. We used Southern blot analysis to detect E2A gene rearrangements and RT-PCR to detect chimeric E2A-pbx1 transcripts. In addition to seven cases with the molecular pattern usually associated with the t(1;19), we identified three molecular variants. In one case, a variant E2A-pbx1 transcript showed 27 additional base pairs inserted in frame at the junction site. In two cases, Southern blot evidenced the expected E2A gene rearrangements. However, extensive RT-PCR analysis failed to detect any E2A-pbx1 transcript. These findings led us to hypothesize that a gene other than PBX1 might be involved in these 1;19 variant translocations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Child
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 19*
  • Gene Rearrangement
  • Humans
  • Molecular Sequence Data
  • Neoplasm Proteins / analysis*
  • Polymerase Chain Reaction
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Recombinant Fusion Proteins / analysis*
  • Translocation, Genetic*

Substances

  • Neoplasm Proteins
  • Recombinant Fusion Proteins