title: Occurrence of the JAK2 V617F mutation in the Budd-Chiari syndrome.
abstract: 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.
authors.affiliation: aAtherosclerosis and Thrombosis, Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Italy.
authors.forename: Donatella
authors.initials: D
authors.lastname: Colaizzo
authors.forename: Lucio
authors.initials: L
authors.lastname: Amitrano
authors.forename: Giovanni L
authors.initials: GL
authors.lastname: Tiscia
authors.forename: Luigi
authors.initials: L
authors.lastname: Iannaccone
authors.forename: Anna
authors.initials: A
authors.lastname: Gallone
authors.forename: Elvira
authors.initials: E
authors.lastname: Grandone
authors.forename: Maria A
authors.initials: MA
authors.lastname: Guardascione
authors.forename: Maurizio
authors.initials: M
authors.lastname: Margaglione
mesh_terms: 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
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2