Document Detail

Incidence of the JAK2 V617F mutation among patients with splanchnic or cerebral venous thrombosis and without overt chronic myeloproliferative disorders.
MedLine Citation:
PMID:  17263783     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Thrombosis of splanchnic or cerebral veins is a typical manifestation of polycythemia vera (PV) or essential thrombocythemia (ET). The recently identified Janus kinase 2 (JAK2) V617F somatic mutation is closely related to chronic myeloproliferative disorders (CMD).
OBJECTIVE: To assess the incidence of the JAK2 V617F mutation among patients with splanchnic or cerebral venous thrombosis with or without overt CMD.
PATIENTS AND METHODS: We searched for the mutation in 139 adult patients (> 18 years old) with thrombosis of hepatic veins (HVT, n = 15), or extrahepatic portal vein (PVT) and/or mesenteric vein (MVT) (n = 79), or cerebral veins (CVT, n = 45). Only 19 patients fulfilled criteria for diagnosis of PV (n = 8) or ET (n = 11) at the time of thrombosis: four had HVT, 11 PVT and/or MVT, and four CVT.
RESULTS: The JAK2 V617F mutation was found in 94.7% [95% CI 75.3-99.0] of the patients with overt CMD at the time of thrombosis, in 21.5% (95% CI 13.8-31.7) of the patients with abdominal venous thrombosis and without overt CMD, and in 4.8% (95% CI 1.3-16.1) of the patients with CVT and without overt CMD. Among the patients without overt CMD or thrombophilia and with unprovoked thrombosis, 29.4% (95% CI 16.8-46.1) with splanchnic venous thrombosis and 42.8% (95% CI 24.4-63.4) with PVT had the JAK2 V617F mutation.
CONCLUSIONS: A substantial proportion of patients with splanchnic venous thrombosis and a small, but significant, number of patients with CVT can be recognized as carriers of the JAK2 V617F mutation in the absence of overt signs of CMD. The clinical significance of such findings deserves further investigation.
V De Stefano; A Fiorini; E Rossi; T Za; G Farina; P Chiusolo; S Sica; G Leone
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-01-29
Journal Detail:
Title:  Journal of thrombosis and haemostasis : JTH     Volume:  5     ISSN:  1538-7933     ISO Abbreviation:  J. Thromb. Haemost.     Publication Date:  2007 Apr 
Date Detail:
Created Date:  2007-04-03     Completed Date:  2007-08-13     Revised Date:  2014-07-29    
Medline Journal Info:
Nlm Unique ID:  101170508     Medline TA:  J Thromb Haemost     Country:  England    
Other Details:
Languages:  eng     Pagination:  708-14     Citation Subset:  IM    
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MeSH Terms
Aged, 80 and over
Cerebral Veins / pathology*
Janus Kinase 2 / genetics*,  physiology*
Middle Aged
Myeloproliferative Disorders / genetics*
Polycythemia Vera / epidemiology,  genetics
Splanchnic Circulation*
Thrombocythemia, Essential / epidemiology,  genetics
Venous Thrombosis / epidemiology,  genetics*
Reg. No./Substance:
EC protein, human; EC Kinase 2

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