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

Animesh D Pardanani, Terra L. Lasho, Kebede Hussein, Susan M. Schwager, Cristy M. Finke, Rajiv K. Pruthi, Ayalew Tefferi

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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.

Original languageEnglish (US)
Pages (from-to)457-459
Number of pages3
JournalMayo Clinic Proceedings
Volume83
Issue number4
DOIs
StatePublished - 2008

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Viscera
Venous Thrombosis
Mutation
Venous Thromboembolism
Neoplasms
Thrombosis
Stroke
Essential Thrombocythemia
Polycythemia Vera
Natural History
Biomarkers
Alleles
Myocardial Infarction

ASJC Scopus subject areas

  • Medicine(all)

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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. / Pardanani, Animesh D; Lasho, Terra L.; Hussein, Kebede; Schwager, Susan M.; Finke, Cristy M.; Pruthi, Rajiv K.; Tefferi, Ayalew.

In: Mayo Clinic Proceedings, Vol. 83, No. 4, 2008, p. 457-459.

Research output: Contribution to journalArticle

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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.",
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