The concomitant occurrence of JAK2V617F mutation and BCR/ABL transcript with phenotypic expression - an overlapping myeloproliferative disorder or two distinct diseases? - case report

J Med Life. 2013 Mar 15;6(1):34-7. Epub 2013 Mar 25.

Abstract

The concomitant occurrence of JAK2617F mutation and BCR/ABL translocation is a rare event. It is unclear if this is a result of the clonal evolution or a separately emergence of two clones and if it could lead to the progression to a more aggressive phase of the disease. We present the case of a 61-year-old man diagnosed and treated for polycythaemia vera for 7 years, which evolved into chronic myeloid leukemia BCR/ABL positive and with JAK2617F mutated clone, that became dominant after an effective treatment with Imatinib.

Keywords: BCR/ABL translocation and JAK2V617F mutation coexpression; Chronic myeloid leukemia; phenotypic expression; polycythemia vera.

Publication types

  • Case Reports

MeSH terms

  • Fusion Proteins, bcr-abl / genetics*
  • Fusion Proteins, bcr-abl / metabolism
  • Humans
  • In Situ Hybridization, Fluorescence
  • Janus Kinase 2 / genetics*
  • Karyotyping
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / diagnosis
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Myeloproliferative Disorders / enzymology*
  • Myeloproliferative Disorders / genetics*
  • Phenotype
  • Polycythemia Vera / genetics
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Treatment Outcome

Substances

  • RNA, Messenger
  • Fusion Proteins, bcr-abl
  • JAK2 protein, human
  • Janus Kinase 2