Emergence of therapy-unrelated CML on a background of BCR-ABL-negative JAK2V617F-positive chronic idiopathic myelofibrosis

Leuk Res. 2008 Oct;32(10):1608-10. doi: 10.1016/j.leukres.2008.03.004. Epub 2008 Apr 29.

Abstract

We report the emergence of a chronic myeloid leukaemia (CML) during the course of a JAK2V617F-positive chronic idiopathic myelofibrosis (CIMF) in the absence of any myelosuppressive treatment. Although a response to imatinib was observed, the underlying myelofibrosis persisted after treatment and hydroxyurea was finally added to control the persistent thrombocytosis. Such rare patients with co-existing BCR-ABL translocation and JAK2V617F mutation must be identified in view of the possibility of targeted therapies. Moreover, the detection of BCR-ABL translocation appears to be crucial especially in the case of treated CIMF with an atypical course to identify CML before acute transformation.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Substitution
  • Chronic Disease
  • Fusion Proteins, bcr-abl / genetics
  • Humans
  • Janus Kinase 2 / genetics*
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / complications
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / diagnosis*
  • Male
  • Middle Aged
  • Point Mutation
  • Primary Myelofibrosis / complications*
  • Primary Myelofibrosis / diagnosis
  • Primary Myelofibrosis / drug therapy
  • RNA, Messenger / analysis

Substances

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