Isolated thrombocytosis as first sign of chronic myeloid leukemia with e6a2 BCR/ABL fusion transcript, JAK2 negativity and complete response to imatinib

Leuk Res. 2008 Jan;32(1):177-80. doi: 10.1016/j.leukres.2007.05.022. Epub 2007 Aug 3.

Abstract

Since very few unusual BCR/ABL fusion transcripts in chronic myeloid leukemia have been reported, no clear evidence exists concerning their clinical and prognostic implications. We describe here a CML case with normal karyotype at standard cytogenetics and an atypical e6a2 BCR/ABL fusion transcript, presenting at diagnosis isolated thrombocytosis and mild leukopenia; the patient, who was tested negative for JAK2 mutation, obtained a complete response to imatinib. The few previous observations from literature are also reviewed.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Benzamides
  • Chromosome Breakage
  • Humans
  • Imatinib Mesylate
  • Janus Kinase 2 / genetics*
  • Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / diagnosis*
  • Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / drug therapy*
  • Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / genetics*
  • Male
  • Piperazines / therapeutic use*
  • Pyrimidines / therapeutic use*
  • Thrombocytosis / diagnosis*
  • Treatment Outcome

Substances

  • Benzamides
  • Piperazines
  • Pyrimidines
  • Imatinib Mesylate
  • JAK2 protein, human
  • Janus Kinase 2