title: JAK2V617F mutation in patients with splanchnic vein thrombosis.
abstract: 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.
  
  
  OBJECTIVE
  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.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
authors.forename: Sandra Guerra
authors.initials: SG
authors.lastname: Xavier
authors.forename: Telma
authors.initials: T
authors.lastname: Gadelha
authors.forename: Glicínia
authors.initials: G
authors.lastname: Pimenta
authors.forename: Angela Maria
authors.initials: AM
authors.lastname: Eugenio
authors.forename: Daniel Dias
authors.initials: DD
authors.lastname: Ribeiro
authors.forename: Fernanda Mendes
authors.initials: FM
authors.lastname: Gomes
authors.forename: Martin
authors.initials: M
authors.lastname: Bonamino
authors.forename: Ilana Renault
authors.initials: IR
authors.lastname: Zalcberg
authors.forename: Nelson
authors.initials: N
authors.lastname: Spector
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001938:Brazil; D006502:Budd-Chiari Syndrome / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D016009:Chi-Square Distribution; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D011169:Portal Vein / Q000503:physiopathology; D011237:Predictive Value of Tests; D012189:Retrospective Studies; D018570:Risk Assessment; D012307:Risk Factors; D013152:Splanchnic Circulation / Q000235:genetics; D013997:Time Factors; D020246:Venous Thrombosis / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D055815:Young Adult
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2
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