E1A3 as a unique, naturally occurring BCR-ABL transcript in an indolent case of chronic myeloid leukaemia

Br J Haematol. 2001 Sep;114(3):635-7. doi: 10.1046/j.1365-2141.2001.02971.x.

Abstract

A woman with Ph-positive chronic myeloid leukaemia (CML) with an atypical e1a3 BCR-ABL hybrid gene is described. To our knowledge, this is the first report of this transcript type as a unique naturally occurring BCR-ABL fusion in a CML patient. This case was characterized by a low leucocyte count and a very indolent course without treatment. Because the deletion of ABL exon 2 sequences results in deletion of an essential part of the ABL SH3 domain, our case suggests that this ABL SH3 domain is not absolutely necessary for efficient induction of a myeloproliferative disease in the context of BCR-ABL/p190.

Publication types

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

MeSH terms

  • Aged
  • Female
  • Fusion Proteins, bcr-abl*
  • Humans
  • Leukemia, Myeloid, Chronic-Phase / genetics
  • Leukemia, Myeloid, Chronic-Phase / immunology
  • Leukemia, Myeloid, Chronic-Phase / metabolism*
  • Leukocyte Count
  • Philadelphia Chromosome
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • Fusion Proteins, bcr-abl