title: JAK2V617F mutation for the early diagnosis of Ph- myeloproliferative neoplasms in patients with venous thromboembolism: a meta-analysis.
abstract: Recent studies suggested that JAK2V617F mutation is frequent in patients with splanchnic vein thrombosis (SVT) but not in patients with other venous thromboembolic events (VTE). However, whether screening for the JAK2V617F mutation in VTE patients is justified remains unclear. Therefore, we performed a systematic review to assess the frequency of JAK2 mutation in VTE patients and the role of JAK2V617F mutation in the diagnosis of myeloproliferative neoplasms. MEDLINE and EMBASE databases were searched. Two reviewers independently performed study selection and extracted study characteristics. Pooled odds ratios of case-control studies and weighted mean proportion of the prevalence of JAK2V617F mutation of uncontrolled series were calculated. Twenty-four studies involving 3123 patients were included. Mean prevalence of JAK2 mutation was 32.7% (95% confidence interval, 25.5%-35.9%) in SVT patients. JAK2 mutation was associated with increased risk of SVT (odds ratio, 53.98; 95% confidence interval, 13.10-222.45). Mean prevalence of JAK2 mutation in other VTE patients was low (range, 0.88%-2.57%). Presence of JAK2V617F mutation in SVT patients was associated with a subsequent diagnosis of myeloproliferative neoplasm in many patients. JAK2 mutation is strongly associated with SVT, and routine screening of JAK2 mutation appears to be indicated in these patients.
authors.affiliation: Department of Clinical Medicine, University of Insubria, Varese, Italy. fdentali@libero.it
authors.forename: Francesco
authors.initials: F
authors.lastname: Dentali
authors.forename: Alessandro
authors.initials: A
authors.lastname: Squizzato
authors.forename: Lorenza
authors.initials: L
authors.lastname: Brivio
authors.forename: Lorena
authors.initials: L
authors.lastname: Appio
authors.forename: Leonardo
authors.initials: L
authors.lastname: Campiotti
authors.forename: Mark
authors.initials: M
authors.lastname: Crowther
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Grandi
authors.forename: Walter
authors.initials: W
authors.lastname: Ageno
mesh_terms: D000465:Algorithms; D019943:Amino Acid Substitution; D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics; D016022:Case-Control Studies; D055088:Early Detection of Cancer; D005260:Female; D005787:Gene Frequency; D006801:Humans; D053614:Janus Kinase 2 / Q000032:analysis / Q000235:genetics*; D008297:Male; D009196:Myeloproliferative Disorders / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D009369:Neoplasms / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D010649:Phenylalanine / Q000235:genetics; D010677:Philadelphia Chromosome; D017354:Point Mutation / Q000502:physiology; D014633:Valine / Q000235:genetics; D054556:Venous Thromboembolism / Q000150:complications* / Q000235:genetics
chemical_list: D014408:Biomarkers, Tumor; D010649:Phenylalanine; C507924:JAK2 protein, human; D053614:Janus Kinase 2; D014633:Valine