JAK2V617F mutation in patients with portal vein thrombosis.
In a retrospective cohort, we investigated the presence of the JAK2V617F mutation in chronic non-cirrhotic portal vein thrombosis (PVT) patients, irrespective of the presence or absence of myeloproliferative diseases (MPDs). We identified 25 patients in whom thrombophilia workup was completed. The diagnoses of MPDs were made according to the World Health Organization (WHO) criteria. JAK2V617F mutation analysis was performed by allele-specific polymerase chain reaction (PCR). There were 9 male and 16 female patients. Prior to JAK2V617F analysis, there were one or more thrombophilic risk factors in 19 patients (76%). The JAK2V617F mutation analysis revealed the presence of this mutation (all in the heterozygote state) in six patients (24%; two male, four female). Five of the six cases with prior clinical diagnosis of MPDs were found to have wild-type JAK2. We found that the addition of JAK2V617F analysis into the thrombophilia workup in patients with chronic PVT contributes to a 4% increase in the diagnosis of thrombophilic conditions.
Bayraktar
Yusuf
Y
Department of Gastroenterology, Hacettepe University Faculty of Medicine, 06100, Sihhiye, Ankara, Turkey. bayrak@hacettepe.edu.tr
Harmanci
Ozgur
O
Büyükasik
Yahya
Y
Shorbagi
Ali Ibrahim
AI
Sungur
Aysegul Hasegeli
AH
Boylu
Cemaliye Akyerli
CA
Gürgey
Aytemiz
A
Balkanci
Ferhun
F
D000328:Adult; D000368:Aged; D002908:Chronic Disease; D015331:Cohort Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009196:Myeloproliferative Disorders / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D011169:Portal Vein; D012189:Retrospective Studies; D020246:Venous Thrombosis / Q000235:genetics*; D014944:World Health Organization
D042965:Methylenetetrahydrofolate Reductase (NADPH2); D053614:Janus Kinase 2