Division of Hematology, Department of Internal Medicine, Medical Faculty, Istanbul University, Istanbul, Turkey.
J Thromb Thrombolysis. 2012 Oct;34(3):388-96. doi: 10.1007/s11239-012-0738-2.
Polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF), collectively known as Philadelphia-negative (Ph-negative) chronic myeloproliferative neoplasms (MPNs), MPNs represent the most common causes of splanchnic vein thrombosis (SVT), including Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT). The JAK2V617F mutation has been demonstrated in most of the Ph-negative chronic MPNs. The study objective was to assess the diagnostic value of JAK2V617F mutation in patients with SVT in a group of 68 patients with SVT (42 PVT,19 BCS, 7 combined PVT and BCS). By DNA-melting curve analysis, the JAK2V617F mutation was detected in 42.1 % of BCS, 38.1 % of PVT and 71.4 % of combined PVT and BCS groups. Thirteen of 15 (86.6 %) SVT patients with overt MPN and 16 of 53 (30.1 %) SVT patients without overt MPN (patients with either normal blood counts or cytopenias), including 6 of 16 with BCS (37.5 %), 7 of 33 with PVT (21.2 %) and 3 of 4 with combined BCS and PVT (75 %) possessed JAK2V617F mutation. A substantial proportion of patients with SVT were recognized as carriers of the JAK2V617F mutation despite the absence of overt signs of MPN. Receiver Operating Characteristic (ROC) curve analysis determined a platelet count of 190,000 mm(3) (area under the curve; AUC = 0.724, p = 0.002) and a white blood cell (WBC) count of 8,150 mm(3) (AUC = 0.76, p = 0.001) as the best cut-off values for the highest sensitivity and specificity ratios of the JAK2V617F mutation in patients with SVT. A significant positive correlation existed between the JAK2V617F mutational status of SVT patients and the WBC and platelet counts. Our results imply that JAK2V617F mutation screening should be an initial test for MPN in patients with SVT.
真性红细胞增多症 (PV)、特发性血小板增多症 (ET) 和特发性骨髓纤维化 (IMF)，统称为费城阴性 (Ph 阴性) 慢性骨髓增生性肿瘤 (MPN)，MPN 是引起脾静脉血栓形成 (SVT) 的最常见原因，包括布加氏综合征 (BCS) 和门静脉血栓形成 (PVT)。JAK2V617F 突变已在大多数 Ph 阴性慢性 MPN 中得到证实。本研究旨在评估 JAK2V617F 突变在 68 例 SVT 患者中的诊断价值，其中 42 例为 PVT、19 例为 BCS、7 例为 PVT 和 BCS 联合。通过 DNA 熔解曲线分析，在 42.1%的 BCS、38.1%的 PVT 和 71.4%的 PVT 和 BCS 联合组中检测到 JAK2V617F 突变。15 例显性 MPN 合并 SVT 患者中有 13 例(86.6%)和 53 例 SVT 患者无显性 MPN(血细胞计数或血细胞减少正常)中有 16 例(30.1%)携带 JAK2V617F 突变，其中 6 例为 BCS(37.5%)，33 例 PVT 中有 7 例(21.2%)，4 例 PVT 和 BCS 联合中有 3 例(75%)携带 JAK2V617F 突变。尽管缺乏显性 MPN 的迹象，但相当一部分 SVT 患者被认为是 JAK2V617F 突变的携带者。受试者工作特征 (ROC) 曲线分析确定血小板计数为 190000/mm3(曲线下面积；AUC=0.724，p=0.002)和白细胞计数为 8150/mm3(AUC=0.76，p=0.001)为 SVT 患者 JAK2V617F 突变的最高敏感性和特异性比值的最佳截断值。SVT 患者 JAK2V617F 突变状态与白细胞计数和血小板计数之间存在显著正相关。我们的结果表明，JAK2V617F 突变筛查应作为 SVT 患者 MPN 的初始检测。
