Deepak Amarapurkar, Punamiya Sundeep, Patel Nikhil, Parekh Sunil, Mehta Shilpa, Shah Nirali
Department of Gastroenterology, Bombay Hospital & Medical Research Centre, Mumbai, India.
Trop Gastroenterol. 2011 Oct-Dec;32(4):279-84.
Myeloproliferative disorders (MPD) (like polycythemia vera, essential thrombocythemia and primary myelofibrosis) are responsible for 50% cases of Budd-Chiari syndrome (BCS) and 35% cases of portal venous thrombosis (PVT) in western series. A point mutation at Val617Phe of Janus kinase 2 tyrosine kinase gene (JAK2(V617F) mutation) occurs in high proportion with MPD. This may be useful in diagnosing overt and latent form of MPD in intra-abdominal venous thrombosis (IAVT), consisting of BCS and PVT.
In a 4 year prospective study from 2006 to 2009, JAK2 mutations were assessed in all patients diagnosed with MPD and IAVT attending our institution. Twenty three healthy individuals and 31 patients with non-MPD hematological disorders served as controls. All patients of idiopathic IAVT were tested for the mutation. Test for JAK2(V617F) mutation was carried out by allele specific polymerase chain reaction.
JAK2(V617F) mutation was significantly more common in MPD patients (76%) than in non-MPD hematological disorders (0%) and healthy controls (0%). There was no statistical difference in presence of JAK2(V617F) mutation in patients of MPD with or without thrombosis (80% vs. 74%). In 58 patients with IAVT, the JAK2(V617F) mutation was present in 40% with BCS, 14% with PVT and 100% combined BCS+PVT).
The JAK2(V617F) mutation occurs at high frequency in patients with MPD and IAVT. All idiopathic IAVT patients must be screened for JAK2(V617F) mutation to detect latent MPD. Detection of latent MPD by JAK2(V61F) mutation in BCS may change treatment strategy and outcome.
骨髓增殖性疾病（MPD）（如真性红细胞增多症、原发性血小板增多症和原发性骨髓纤维化）在西方系列研究中导致了50%的布加综合征（BCS）病例和35%的门静脉血栓形成（PVT）病例。Janus激酶2酪氨酸激酶基因（JAK2(V617F)突变）的第617位缬氨酸突变为苯丙氨酸的点突变在MPD中出现的比例较高。这可能有助于诊断腹腔内静脉血栓形成（IAVT，包括BCS和PVT）中显性和隐性形式的MPD。
在2006年至2009年的一项为期4年的前瞻性研究中，对所有在我们机构就诊的被诊断为MPD和IAVT的患者进行了JAK2突变评估。23名健康个体和31名患有非MPD血液系统疾病的患者作为对照。对所有特发性IAVT患者进行了该突变检测。通过等位基因特异性聚合酶链反应进行JAK2(V617F)突变检测。
JAK2(V617F)突变在MPD患者中（76%）比在非MPD血液系统疾病患者（0%）和健康对照（0%）中明显更常见。有血栓形成和无血栓形成的MPD患者中JAK2(V617F)突变的存在没有统计学差异（80%对74%）。在58例IAVT患者中，BCS患者中JAK2(V617F)突变的发生率为40%，PVT患者中为14%，BCS + PVT合并患者中为100%。
JAK2(V617F)突变在MPD和IAVT患者中发生率较高。所有特发性IAVT患者都必须筛查JAK2(V617F)突变以检测潜在的MPD。通过JAK2(V61F)突变检测BCS中的潜在MPD可能会改变治疗策略和结果。
