Occurrence of the JAK2 V617F mutation in the Budd-Chiari syndrome.
Myeloproliferative diseases represent a major risk factor for Budd-Chiari syndrome. In 32 patients with Budd-Chiari syndrome, the JAK2 V617F mutation was detected, in heterozygous state, in 11 individuals (34.4%; 95% confidence interval: 18.6-53.2). Eight patients with (72.7%; 95% confidence interval: 39.0-94.0) and six without (28.6%; 95% confidence interval: 11.3-52.2) the JAK2 V617F mutation had a diagnosis of myeloproliferative diseases before or at the occurrence of the venous thrombotic event. In three patients carrying the JAK2 V617F mutation, a myeloproliferative disease was not detected. Determination of the JAK2 V617F mutation may be useful to recognize patients with Budd-Chiari syndrome with or at risk for the subsequent development of overt myeloproliferative diseases.
Colaizzo
Donatella
D
aAtherosclerosis and Thrombosis, Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Italy.
Amitrano
Lucio
L
Tiscia
Giovanni L
GL
Iannaccone
Luigi
L
Gallone
Anna
A
Grandone
Elvira
E
Guardascione
Maria A
MA
Margaglione
Maurizio
M
D000293:Adolescent; D000328:Adult; D006502:Budd-Chiari Syndrome / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009196:Myeloproliferative Disorders / Q000201:enzymology / Q000209:etiology / Q000235:genetics*; D012307:Risk Factors
C507924:JAK2 protein, human; D053614:Janus Kinase 2