Detection of the JAK2V617F mutation in patients with slightly elevated platelets or hemoglobin without a secondary cause

Ann Hematol. 2007 Nov;86(11):801-3. doi: 10.1007/s00277-007-0355-x. Epub 2007 Aug 17.

Abstract

Recently, an activating somatic mutation of Janus kinase 2 (JAK2V617F) was identified in the myeloproliferative disorders (MPDs). In this study, we investigated the occurrence of JAK2V617F in patients with slightly elevated platelets or hemoglobin without a secondary cause, who did not meet the criteria of polycythemia vera or essential thrombocythemia. Six out of 18 patients (33%) were positive for the JAK2 mutation, and five of these six patients had a history of thrombosis. These findings suggest that apart from thrombocytosis/erythrocytosis, other mechanisms exist that cause thrombosis, and more patients with a latent form of MPD are likely to exist. Future studies will have to elucidate how to treat these patients.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Cross-Sectional Studies
  • Female
  • Hemoglobins
  • Humans
  • Janus Kinase 2 / genetics*
  • Male
  • Middle Aged
  • Myeloproliferative Disorders / genetics
  • Polycythemia / genetics*
  • Polymorphism, Single Nucleotide*
  • Retrospective Studies
  • Thrombocytosis / genetics*
  • Thrombosis / genetics*

Substances

  • Hemoglobins
  • JAK2 protein, human
  • Janus Kinase 2