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JAK2V617F mutation in patients with thrombosis: to screen or not to screen?

Abstract：

INTRODUCTION:Thrombotic complications are a main concern in patients with myeloproliferative neoplasms. Recently, a gain-of-function mutation of the gene encoding the JAK2 tyrosine kinase that results in a valine-to-phenylalanine substitution at position 617 (V617F) has been described. Since the description of the JAK2-V617F mutation and its finding in patients with splanchnic vein thrombosis without an overt myeloproliferative neoplasm, many groups have studied the prevalence of this mutation in patients with unexplained venous and arterial thrombosis. METHODS:A literature search was made using the key words thrombosis, JAK2V617F mutation, myeloproliferative neoplasms, cerebral vein thrombosis and splanchnic vein thrombosis. RESULTS:JAK2V617F is frequent in patients with splanchnic vein thrombosis, but is rare in patients with venous thrombosis at other locations or with arterial thrombosis. CONCLUSION:Routine testing for JAK2V617F is not currently recommended for patients with unexplained thromboses, except for those with splanchnic vein thrombosis. In patients with cerebral vein thrombosis, the value of testing for JAK2V617F mutation is yet to be established.

journal_name

Int J Lab Hematol

journal_title

International journal of laboratory hematology

authors

Xavier SG,Gadelha T,Rezende SM,Zalcberg IR,Spector N

doi

10.1111/j.1751-553X.2010.01275.x

subject

Has Abstract

pub_date

2011-04-01 00:00:00

pages

117-24

issue

2

eissn

1751-5521

issn

1751-553X

journal_volume

33

pub_type

杂志文章,评审

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