A case of chronic myelogenous leukemia with e8a2 fusion transcript

Cancer Genet Cytogenet. 2008 Sep;185(2):106-8. doi: 10.1016/j.cancergencyto.2008.06.001.

Abstract

The Philadelphia chromosome and its corresponding fusion gene, BCR-ABL, is one of the best-known genetic abnormalities in hematological malignancies. Major BCR-ABL translocation is much more common in chronic myelogenous leukemia (CML) and minor BCR-ABL in acute lymphoblastic leukemia. We experienced an extraordinarily rare case of CML with an e8a2 variant. An unusual band, other than the common transcripts, was observed in reverse transcription-polymerase chain reaction (RT-PCR) for the BCR-ABL gene rearrangement. Sequence analysis of the PCR product revealed an 1172-bp e8a2 fusion with a 14-bp insertion of ABL intron Ia. The patient achieved a complete hematological response 3 months after imatinib treatment. It is necessary to keep in mind that an unexpected band revealed with RT-PCR may mean the presence of unusual fusion gene.

Publication types

  • Case Reports

MeSH terms

  • Gene Fusion*
  • Gene Rearrangement
  • Genes, abl*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
  • Male
  • Middle Aged
  • RNA, Messenger / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • RNA, Messenger