Document Detail


JAK2V617F mutation in patients with splanchnic vein thrombosis.
MedLine Citation:
PMID:  19690956     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Splanchnic vein thrombosis can be the presenting manifestation of myeloproliferative neoplasms. However, the diagnosis of a myeloproliferative neoplasm in these patients is often problematic, and more objective criteria are needed.
AIM: To determine the frequency of the mutation JAK2V617F in patients with splanchnic vein thromboses.
METHODS: A consecutive series of 108 adult patients with portal vein thrombosis (n = 77) and Budd-Chiari syndrome (n = 31) referred for hemostasis evaluation was retrospectively studied, with a median follow-up of 51 months (1-104).
RESULTS: One or more prothrombotic risk factors were present in 63% of the patients. Twenty-four (22%) out of the 108 patients presented the JAK2V617F, including 2 cirrhotic patients. Most had a low mutated allele burden (median 16.5%). JAK2V617F was present in all four patients with a previous diagnosis of a myeloproliferative neoplasm. In nine JAK2V617F-positive patients, the diagnosis of a myeloproliferative neoplasm was made at the thrombosis work-up, during follow-up or after JAK2V617F detection. Among the other 11 patients carrying the mutation, 2 patients have died, 4 had no evidence suggesting a myeloproliferative neoplasm, 1 had a normal bone marrow biopsy, and the other 4 could not be persuaded to undergo a biopsy. Among the patients without an overt myeloproliferative neoplasm, 15 out of 99 (15%) presented the JAK2V617F mutation. None of the JAK2V617F-negative patients have developed signs of a myeloproliferative neoplasm during follow-up.
CONCLUSIONS: Our findings suggest that JAK2V617F occurs in a high proportion of patients with splanchnic vein thrombosis, and reinforces the diagnostic utility of JAK2V617F testing in this setting.
Authors:
Sandra Guerra Xavier; Telma Gadelha; Glicínia Pimenta; Angela Maria Eugenio; Daniel Dias Ribeiro; Fernanda Mendes Gomes; Martin Bonamino; Ilana Renault Zalcberg; Nelson Spector
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Publication Detail:
Type:  Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't     Date:  2009-08-19
Journal Detail:
Title:  Digestive diseases and sciences     Volume:  55     ISSN:  1573-2568     ISO Abbreviation:  Dig. Dis. Sci.     Publication Date:  2010 Jun 
Date Detail:
Created Date:  2010-06-09     Completed Date:  2010-07-07     Revised Date:  2012-06-05    
Medline Journal Info:
Nlm Unique ID:  7902782     Medline TA:  Dig Dis Sci     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1770-7     Citation Subset:  AIM; IM    
Affiliation:
Hematology Service, Department of Internal Medicine, University Hospital Clementino Fraga Filho, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil. sandraguerra.xavier@gmail.com
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Aged
Brazil
Budd-Chiari Syndrome / diagnosis,  enzymology,  genetics*,  physiopathology
Chi-Square Distribution
Female
Gene Frequency
Genetic Predisposition to Disease
Genetic Testing
Humans
Janus Kinase 2 / genetics*
Male
Middle Aged
Mutation*
Myeloproliferative Disorders / diagnosis,  enzymology,  genetics*,  physiopathology
Phenotype
Portal Vein* / physiopathology
Predictive Value of Tests
Retrospective Studies
Risk Assessment
Risk Factors
Splanchnic Circulation / genetics
Time Factors
Venous Thrombosis / diagnosis,  enzymology,  genetics*,  physiopathology
Young Adult
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


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