The JAK2 V617F mutation in patients with cerebral venous thrombosis

J Thromb Haemost. 2012 Jun;10(6):998-1003. doi: 10.1111/j.1538-7836.2012.04719.x.


Background: It is currently unclear whether or not cerebral venous thrombosis, such as splanchnic venous thrombosis, can be the first manifestation of an underlying myeloproliferative neoplasm.

Objective: To determine the prevalence of the JAK2 V617F mutation in patients with a first episode of cerebral venous thrombosis.

Patients: In this retrospective cohort study, patients with cerebral venous thrombosis were tested for the JAK2 V617F mutation and were followed until the development of a myeloproliferative neoplasm or censored at the end of follow-up.

Results: Ten of 152 patients (6.6%) carried the JAK2 V617F mutation. Three of them had known acquired risk factors for thrombosis, and five had thrombophilia. Six patients met the diagnostic criteria for myeloproliferative neoplasm at the time of cerebral venous thrombosis, and three additional patients developed the disease during the follow-up (median duration 7.8 years, range 6 months to 21.3 years), giving an annual incidence of 0.26% patient-years (95% confidence interval 0.05-0.64). The last patient has no evidence of disease after 3 years of follow-up. Patients without the JAK2 V617F mutation at the time of cerebral venous thrombosis were retested at the end of the follow-up and remained negative, with normal blood counts (log-rank test χ(2) : 159 [P<0.0001]).

Conclusions: Cerebral venous thrombosis can be the first symptom of a myeloproliferative neoplasm. Patients with cerebral venous thrombosis can carry the JAK2 V617F mutation, irrespective of blood count.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Blood Coagulation / genetics*
  • Chi-Square Distribution
  • Disease-Free Survival
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Incidence
  • Intracranial Thrombosis / enzymology
  • Intracranial Thrombosis / genetics*
  • Intracranial Thrombosis / mortality
  • Italy / epidemiology
  • Janus Kinase 2 / genetics*
  • Male
  • Middle Aged
  • Mutation*
  • Myeloproliferative Disorders / blood
  • Myeloproliferative Disorders / epidemiology*
  • Myeloproliferative Disorders / mortality
  • Phenotype
  • Prevalence
  • Retrospective Studies
  • Risk Assessment
  • Risk Factors
  • Time Factors
  • Venous Thrombosis / enzymology
  • Venous Thrombosis / genetics*
  • Venous Thrombosis / mortality
  • Young Adult


  • JAK2 protein, human
  • Janus Kinase 2