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    
Abstract/OtherAbstract:
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.
Authors:
V De Stefano; A Fiorini; E Rossi; T Za; G Farina; P Chiusolo; S Sica; G Leone
Related Documents :
10493383 - Emergent decompressive craniectomy in patients with fixed dilated pupils due to cerebra...
9328253 - Dural puncture and activated protein c resistance: risk factors for cerebral venous sin...
22855293 - Recurrent blood eosinophilia in ulcerative colitis is associated with severe disease an...
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:  2012-06-05    
Medline Journal Info:
Nlm Unique ID:  101170508     Medline TA:  J Thromb Haemost     Country:  England    
Other Details:
Languages:  eng     Pagination:  708-14     Citation Subset:  IM    
Affiliation:
Institute of Hematology, Catholic University, Rome, Italy. valerio.destefano@rm.unicatt.it
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adult
Aged
Aged, 80 and over
Cerebral Veins / pathology*
Female
Humans
Janus Kinase 2 / genetics*,  physiology*
Male
Middle Aged
Mutation*
Myeloproliferative Disorders / genetics*
Polycythemia Vera / epidemiology,  genetics
Splanchnic Circulation*
Thrombocythemia, Essential / epidemiology,  genetics
Venous Thrombosis / epidemiology,  genetics*
Chemical
Reg. No./Substance:
EC 2.7.10.1/Janus Kinase 2; EC 2.7.10.2/JAK2 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Visual dysfunctions and ocular disorders in children with developmental delay. I. prevalence, diagno...
Next Document:  Non-heart beating organ donation: overview and future perspectives.