A case of mature B-cell ALL with coexistence of t(1;19) and t(14;18) and expression of the E2A/PBX1 fusion gene

Br J Haematol. 1996 Jul;94(1):133-5. doi: 10.1046/j.1365-2141.1996.d01-1754.x.

Abstract

The translocation t(1;19)(q23;p13) is found in 3-5% of all acute lymphoblastic leukaemias (ALL) and results in the expression of an E2A/PBX1 hybrid gene transcript. This translocation is very closely associated with a pre-B phenotype. t(14;18) is associated with follicular B-cell lymphoma and is characterized by over-expression of the bcl-2 oncogene. We describe a case of ALL in an adult with a mature B-cell immunophenotype and a single abnormal cell line with a complex karyotype showing both t(1;19) and t(14;18). Two reports of this phenomenon have been published previously and molecular analysis, where performed, showed the E2A gene was not rearranged, suggesting the t(1;19) was a molecular variant of the established translocation. In contrast, molecular analysis of our case demonstrated expression of the E2A/PBX1 fusion transcript typically associated with t(1;19) in pre-B ALL but showed it to be present at an extremely low level, despite the abnormal karyotype being found in the majority of metaphase cells. Analysis of bcl-2 expression showed a significant up-regulation. A down-regulation of the E2A/PBX1 hybrid gene as a consequence of the enhanced expression of bcl-2 may be a possible mechanism for this finding.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Burkitt Lymphoma / genetics*
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 14*
  • Chromosomes, Human, Pair 18*
  • Chromosomes, Human, Pair 19*
  • Homeodomain Proteins / genetics*
  • Humans
  • Male
  • Middle Aged
  • Oncogene Proteins, Fusion / genetics*
  • Polymerase Chain Reaction
  • Translocation, Genetic*

Substances

  • Homeodomain Proteins
  • Oncogene Proteins, Fusion
  • E2A-Pbx1 fusion protein