JAK2 mutations across a spectrum of venous thrombosis cases

Am J Clin Pathol. 2010 Jul;134(1):82-5. doi: 10.1309/AJCP7VO4HAIZYATP.


The JAK2(V617F)mutation is recurrent in polycythemia vera and essential thrombocythemia, which are myeloproliferative neoplasms frequently associated with arterial and venous thromboembolism. It has also been reported as a marker for occult myeloproliferative disorder (MPD) in patients with splanchnic venous thrombosis. Limited data are available regarding the prevalence of the JAK2(V617F) mutation in patients with thrombosis outside the splanchnic region. For the study, 321 cases of venous thrombosis in the splanchnic and nonsplanchnic regions (cerebral venous thrombosis [CVT], 70; deep venous thrombosis [DVT], 36; Budd-Chiari syndrome [BCS], 137; portal venous thrombosis [PVT], 78) were studied for the presence of JAK2 mutations. The prevalence values for the JAK2 mutation were 3% (1/36), 8.8% (12/137), 5% (4/78), and 3% (2/70) in DVT, BCS, PVT, and CVT, respectively; 19 (5.9%) of 321 cases were positive for the JAK2 mutation. Of 111 healthy subjects screened for this mutation, none were found to be carriers. Determination of the JAK2(V617F) mutation may be useful to identify patients who should be carefully observed for the development of overt MPDs. The significance of screening for this mutation in nonsplanchnic thrombosis cases needs to be analyzed in a larger series.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Budd-Chiari Syndrome / genetics
  • Budd-Chiari Syndrome / pathology
  • Cerebral Veins / pathology
  • Child
  • Child, Preschool
  • Female
  • Genetic Markers*
  • Genetic Predisposition to Disease*
  • Genetic Testing
  • Humans
  • Infant
  • Janus Kinase 2 / genetics*
  • Male
  • Middle Aged
  • Mutation*
  • Portal Vein / pathology
  • Retrospective Studies
  • Splanchnic Circulation
  • Venous Thrombosis / genetics*
  • Venous Thrombosis / pathology
  • Young Adult


  • Genetic Markers
  • JAK2 protein, human
  • Janus Kinase 2