GSBS Student Publications

Title

JAK2V617F mutation screening as part of the hypercoagulable work-up in the absence of splanchnic venous thrombosis or overt myeloproliferative neoplasm: assessment of value in a series of 664 consecutive patients

UMMS Affiliation

Graduate School of Biomedical Sciences; Division of Hematology; Department of Biochemistry and Molecular Biology; Program in Molecular Medicine

Date

4-3-2008

Document Type

Article

Medical Subject Headings

Adolescent; Adult; Aged; Aged, 80 and over; Alleles; DNA; Female; Genetic Screening; Humans; Janus Kinase 2; Male; *Mesenteric Veins; Middle Aged; Minnesota; *Mutation; Myeloproliferative Disorders; Prevalence; Retrospective Studies; Thrombophilia; Venous Thrombosis

Disciplines

Life Sciences | Medicine and Health Sciences

Abstract

The JAK2V617F mutation is recurrent in polycythemia vera and essential thrombocythemia, which are myeloproliferative neoplasms (MPNs) frequently associated with arterial and/or venous thromboembolism. More recently, the JAK2V617F mutation has been identified as a surrogate marker for subclinical or "occult" clonal myeloproliferation in patients with splanchnic venous thrombosis. However, information is limited regarding JAK2V617F-associated thrombosis outside the splanchnic district in patients without overt MPN. To address this issue, we retrospectively studied a consecutive series of 664 such patients who experienced thrombotic events characteristic of an MPN (500 with venous thromboembolism, 136 with stroke, and 28 with myocardial infarction at a young age). The JAK2V617F mutation was detected in only 6 (<1.0%) patients (5 with recurrent venous thromboembolism and 1 with stroke), and the mutant allele burden was low in all instances (range, 2.2%-7.5%). None of these 6 patients developed either overt MPN or recurrent thrombosis after a median follow-up of 40 months. We conclude that the prevalence of the JAK2V617F mutation in patients with nonsplanchnic venous thrombosis in the absence of MPN is too low to warrant mutation screening as part of the hypercoagulable work-up. Our study also suggests that the natural history of a JAK2V617F-positive "occult" MPN might be different from that of a typical MPN.

Rights and Permissions

Citation: Mayo Clin Proc. 2008 Apr;83(4):457-9.

Related Resources

Link to Article in PubMed

Journal Title

Mayo Clinic proceedings. Mayo Clinic

PubMed ID

18380991