JAK2V617F mutation in patients with splanchnic vein thrombosis.
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.
Xavier
Sandra Guerra
SG
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
Gadelha
Telma
T
Pimenta
Glicínia
G
Eugenio
Angela Maria
AM
Ribeiro
Daniel Dias
DD
Gomes
Fernanda Mendes
FM
Bonamino
Martin
M
Zalcberg
Ilana Renault
IR
Spector
Nelson
N
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
C507924:JAK2 protein, human; D053614:Janus Kinase 2
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