title: Association between thromboembolic events and the JAK2 V617F mutation in myeloproliferative neoplasms.
abstract: Thrombotic complications are a major cause of death in patients with Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs), which are closely associated with the JAK2 V617F activating mutation. However, whether the presence of the JAK2 V617F mutation affects thrombotic risk is currently unknown, although some reports have suggested a variable association with thrombosis. Therefore, we investigated the association between JAK2 V617F and various complications, including thrombosis, in Japanese patients with MPNs. We assessed the JAK2 V617F status in 140 patients who were diagnosed or doubted as having some type of MPN by utilizing a JAK2 V617F-specific guanine-quenching probe. JAK2 V617F was detected in 31 of 51 patients (60.8%) with essential thrombocythemia, all 16 patients (100%) with polycythemia vera, 4 of 11 patients (36.4%) with primary myelofibrosis, 2 of 18 patients (11.1%) with other types of MPNs, and none of the 44 patients with doubted MPN. In the 78 patients with classical MPN, JAK2 V617F correlated with a leukocyte count ≥10,000/μl (p=0.046). Complications of thrombosis, hemorrhage, and leukemic transformation occurred in 21 (41.2%), 4 (25.0%), and 3 (27.3%) patients with classical MPN, respectively, and thrombotic events (TE) occurred more frequently in patients with JAK2 V617F than without (p=0.047). Based on these findings, initial screening for the JAK2 mutation and careful monitoring for thrombotic events should be performed in patients with MPN.
authors.affiliation: Department of Medicine, Kurume University School of Medicine.
authors.forename: Yuka
authors.initials: Y
authors.lastname: Takata
authors.forename: Ritsuko
authors.initials: R
authors.lastname: Seki
authors.forename: Taisuke
authors.initials: T
authors.lastname: Kanajii
authors.forename: Masayuki
authors.initials: M
authors.lastname: Nohara
authors.forename: Satoko
authors.initials: S
authors.lastname: Koteda
authors.forename: Kuniki
authors.initials: K
authors.lastname: Kawaguchi
authors.forename: Kei
authors.initials: K
authors.lastname: Nomura
authors.forename: Takayuki
authors.initials: T
authors.lastname: Nakamura
authors.forename: Satoshi
authors.initials: S
authors.lastname: Morishige
authors.forename: Eijirou
authors.initials: E
authors.lastname: Oku
authors.forename: Koichi
authors.initials: K
authors.lastname: Osaki
authors.forename: Emichitoshi
authors.initials: E
authors.lastname: Hashiguchi
authors.forename: Fumihiko
authors.initials: F
authors.lastname: Mouri
authors.forename: Koji
authors.initials: K
authors.lastname: Yoshimoto
authors.forename: Koji
authors.initials: K
authors.lastname: Nagafuji
authors.forename: Takashi
authors.initials: T
authors.lastname: Okamura
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D015994:Incidence; D053614:Janus Kinase 2 / Q000235:genetics*; D007564:Japan / Q000453:epidemiology; D007958:Leukocyte Count; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000097:blood / Q000150:complications / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D011087:Polycythemia Vera / Q000201:enzymology / Q000235:genetics; D011237:Predictive Value of Tests; D055728:Primary Myelofibrosis / Q000201:enzymology / Q000235:genetics; D012189:Retrospective Studies; D012307:Risk Factors; D013920:Thrombocythemia, Essential / Q000201:enzymology / Q000235:genetics; D013923:Thromboembolism / Q000097:blood / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D055815:Young Adult
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2