JAK2(V617F) and leukemic transformation in myelofibrosis with myeloid metaplasia

Leuk Res. 2006 Nov;30(11):1457-60. doi: 10.1016/j.leukres.2006.01.008. Epub 2006 Mar 23.


Amongst 42 consecutive patients with leukemic transformation (LT) from myelofibrosis with myeloid metaplasia (MMM) 72% carried the JAK2(V617F) mutation. The mutation was observed at expected frequencies in all subtypes of MMM and acute myeloid leukemia. Although the patients with the mutation were younger and had a shorter interval to LT there was no difference in survival. Additionally, both the lack of mutation status progression in serial analysis (available in nine patients) and the low frequency of patients with high mutated allele burden suggest that LT arising from MMM is probably not dependent on changes in JAK2(V617F) mutation status.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Amino Acid Substitution / genetics
  • Cytogenetic Analysis / methods
  • DNA / genetics
  • Disease Progression
  • Female
  • Humans
  • Janus Kinase 2 / genetics*
  • Leukemia, Myeloid / genetics*
  • Male
  • Middle Aged
  • Mutation
  • Primary Myelofibrosis / complications
  • Primary Myelofibrosis / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction / methods
  • Survival Rate


  • DNA
  • JAK2 protein, human
  • Janus Kinase 2