A novel BCR-ABL transcript e2a2 in a chronic myelogenous leukaemia patient with a duplicated Ph-chromosome and monosomy 7

Br J Haematol. 1999 Sep;106(4):1041-4. doi: 10.1046/j.1365-2141.1999.01640.x.

Abstract

A novel BCR-ABL transcript was detected by multiplex RT-PCR in a patient with Philadelphia chromosome (Ph) positive chronic myelogenous leukaemia (CML) in accelerated phase. Sequencing of the aberrant transcript revealed an in-frame e2a2 fusion that included a 9 basepairs insertion. Cytogenetic analysis showed t(9;22), an additional Ph chromosome and monosomy 7. The clinical course was dismal: therapy was poorly tolerated, and the patient died in blast crisis 10 months after diagnosis. These data support the association of additional Ph and monosomy 7 with poor prognosis and suggest that the novel e2a2 BCR-ABL transcript may be related to an aggressive clinical course.

Publication types

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

MeSH terms

  • Aged
  • Chromosome Aberrations / genetics*
  • Chromosomes, Human, Pair 22 / genetics*
  • Chromosomes, Human, Pair 7 / genetics*
  • Fatal Outcome
  • Female
  • Fusion Proteins, bcr-abl / genetics*
  • Humans
  • Karyotyping
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
  • Monosomy / genetics
  • Translocation, Genetic

Substances

  • Fusion Proteins, bcr-abl