A variant transcript, e1a3, of the minor BCR-ABL fusion gene in acute lymphoblastic leukemia: case report and review of the literature

Int J Hematol. 2008 Mar;87(2):184-188. doi: 10.1007/s12185-008-0031-5. Epub 2008 Feb 6.

Abstract

We report a rare case of adult Philadelphia chromosome (Ph)-positive acute lymphoblastic leukemia (ALL) with an e1a3 fusion transcript. A 25-year-old female consulted our hospital for leukocytosis and thrombocytopenia. She was diagnosed with Ph-positive precursor B cell ALL. The patient's BCR-ABL fusion gene showed the e1a3 transcript. She received bone marrow transplantation (BMT) in the first complete remission (CR). However, the disease relapsed 4 months later, and she received a second BMT in the second CR, which caused lethal venoocculusive disease. The duration of the total clinical course was 18 months. We established a new cell line from the patient's leukemic cells at the time of relapse, which is very rare and useful for study as an atypical Ph-positive ALL model. The literature on Ph-positive leukemia lacking ABL exon 2 was also reviewed.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Child, Preschool
  • Exons / genetics
  • Female
  • Genes, abl / genetics*
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Philadelphia Chromosome
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Transcription, Genetic / genetics