Division of Hematology, Department of Internal Medicine, Istanbul Training and Research Hospital, Istanbul, Turkey.
Clin Appl Thromb Hemost. 2012 Jul;18(4):421-6. doi: 10.1177/1076029611427440. Epub 2011 Dec 26.
The Janus kinase 2(V617F) (JAK2 (V617F)) mutation is an acquired genetic defect that is considered to enhance thrombosis in Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs). Thrombosis is also a well-defined component of Behcet syndrome (BS). The aim of this study was to determine the frequency of JAK2 ( V617F ) mutation in BS-associated thrombosis. A total of 152 patients with BS (62 with thrombosis and 90 without thrombosis) were enrolled. An additional 186 patients with MPNs and 107 healthy blood donors were included to serve as diseased and healthy controls, respectively. None of the patients with BS and healthy controls carried the JAK2 (V617F) mutation, whereas 67% of patients with MPNs were positive for JAK2 ( V617F ). The frequency of thrombosis in patients with MPNs was not statistically different between carriers and non-carriers of JAK2 ( V617F ) mutation. Our data suggest that JAK2 (V617F) is not directly related to thrombosis in MPNs and in other thrombotic entities, such as BS.
Janus 激酶 2(V617F) (JAK2(V617F)) 突变是一种后天获得的遗传缺陷，被认为会增强费城染色体阴性骨髓增殖性肿瘤（MPN）中的血栓形成。血栓形成也是 Behcet 综合征（BS）的一个明确组成部分。本研究旨在确定 JAK2(V617F)突变在 BS 相关血栓形成中的频率。共纳入 152 例 BS 患者（62 例有血栓形成，90 例无血栓形成）。另外纳入 186 例 MPN 患者和 107 名健康献血者作为疾病和健康对照。BS 患者和健康对照均未携带 JAK2(V617F)突变，而 67%的 MPN 患者 JAK2(V617F)阳性。JAK2(V617F)突变携带者和非携带者的 MPN 患者血栓形成频率无统计学差异。我们的数据表明，JAK2(V617F)与 MPN 以及其他血栓形成实体（如 BS）中的血栓形成无直接关系。
