Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Blood. 2012 Dec 13;120(25):4921-8. doi: 10.1182/blood-2011-09-376517. Epub 2012 Oct 4.
Myeloproliferative neoplasms (MPNs) are the most common cause of Budd-Chiari syndrome (BCS) and nonmalignant, noncirrhotic portal vein thrombosis (PVT). In this meta-analysis, we determined the prevalence of MPNs and their subtypes as well as JAK2V617F and its diagnostic role in these uncommon disorders. MEDLINE and EMBASE databases were searched. Prevalence of MPNs, JAK2V617F, and MPN subtypes were calculated using a random-effects model. A total of 1062 BCS and 855 PVT patients were included. In BCS, mean prevalence of MPNs and JAK2V617F was 40.9% (95% CI, 32.9%-49.5%) and 41.1% (95% CI, 32.3%-50.6%), respectively. In PVT, mean prevalence of MPNs and JAK2V617F was 31.5% (95% CI, 25.1%-38.8%) and 27.7% (95% CI, 20.8%-35.8%), respectively. JAK2V617F and MPNs were more frequent in BCS compared with PVT (P = .03 and P = .09, respectively). Polycythemia vera was more prevalent in BCS than in PVT (P = .001). JAK2V617F screening in splanchnic vein thrombosis (SVT) patients without typical hematologic MPN features identified MPN in 17.1% and 15.4% of screened BCS and PVT patients, respectively. These results demonstrate a high prevalence of MPNs and JAK2V617F in SVT patients and show differences in underlying etiology between these disorders. Furthermore, these results validate routine inclusion of JAK2V617F in the diagnostic workup of SVT patients.
骨髓增殖性肿瘤（MPNs）是布加氏综合征（BCS）和非恶性、非肝硬化性门静脉血栓形成（PVT）最常见的原因。在这项荟萃分析中，我们确定了 MPN 及其亚型以及 JAK2V617F 的患病率，以及它们在这些罕见疾病中的诊断作用。我们检索了 MEDLINE 和 EMBASE 数据库。使用随机效应模型计算 MPN、JAK2V617F 和 MPN 亚型的患病率。共纳入 1062 例 BCS 和 855 例 PVT 患者。在 BCS 中，MPN 和 JAK2V617F 的平均患病率分别为 40.9%（95%CI，32.9%-49.5%）和 41.1%（95%CI，32.3%-50.6%）。在 PVT 中，MPN 和 JAK2V617F 的平均患病率分别为 31.5%（95%CI，25.1%-38.8%）和 27.7%（95%CI，20.8%-35.8%）。与 PVT 相比，BCS 中 JAK2V617F 和 MPN 更为常见（P=.03 和 P=.09）。BCS 中真性红细胞增多症比 PVT 更为常见（P=.001）。在没有典型血液学 MPN 特征的脾静脉血栓形成（SVT）患者中进行 JAK2V617F 筛查，分别在筛查的 BCS 和 PVT 患者中发现 17.1%和 15.4%的 MPN。这些结果表明，SVT 患者中 MPN 和 JAK2V617F 的患病率较高，并显示出这些疾病之间潜在病因的差异。此外，这些结果验证了在 SVT 患者的诊断评估中常规纳入 JAK2V617F。
