Department of Basic-Clinical Oncology, Faculty of Medicine, University of Chile, Santiago, Chile.
University of Chile Clinical Hospital, Santiago, Chile.
Int J Lab Hematol. 2020 Jun;42(3):331-334. doi: 10.1111/ijlh.13184. Epub 2020 Mar 10.
Mesenteric and portal venous thromboses are rare diseases with high mortality rates and are strongly associated with hepatic cirrhosis, and abdominal inflammatory or tumoral processes, but in some cases can be the first sign of myeloproliferative neoplasm (MPN) or hereditary thrombophilia. JAK2V617F mutation detection is an important diagnostic tool for MPN patients. The aim of this study was to describe the JAK2V617F mutation prevalence on Chilean patients suffering from a primary splanchnic venous thrombosis (SVT), in order to assess how it relates to primary MVT and PVT in our specific population.
A retrospective observational study was conducted in patients referred to the University of Chile Clinical Hospital with mesenteric and/or portal venous thrombosis diagnosis over a 7-year period. Patients with primary thrombosis underwent hereditary thrombophilia study and JAK2V617F mutation screening.
A total of 123 patients had splanchnic venous thrombosis (mesenteric and/or portal) as their main discharge diagnosis. Sixty patients (49%) had primary mesenteric or portal venous thrombosis (no attributable secondary cause). Hereditary thrombophilia and MPN were diagnosed in 21.6% and 43.3% of SVT patients, respectively. Twenty SVT patients remained without an etiologic diagnosis. In MPN patients, almost all had the JAK2V617F mutation (92.3%). About 16% of patients who had positive JAK2V617F mutation did not meet diagnostic criteria for MPN.
In this Chilean cohort, half of mesenteric or portal venous thrombosis showed no secondary cause. In this group, the main causes were MPN and hereditary thrombophilia. Nearly, all MPN patients had JAK2V617F mutation, but there was a group of patients having JAK2V617F mutation but did not meet MPN criteria.
肠系膜和门静脉血栓形成是一种罕见的疾病，死亡率很高，与肝硬化以及腹部炎症或肿瘤过程密切相关，但在某些情况下，也可能是骨髓增生性肿瘤（MPN）或遗传性血栓形成倾向的首发表现。JAK2V617F 突变检测是 MPN 患者的重要诊断工具。本研究旨在描述智利原发性肠系膜静脉血栓形成（SVT）患者中 JAK2V617F 突变的流行情况，以评估其与我们特定人群中原发性 MVT 和 PVT 的关系。
对在智利大学临床医院就诊的肠系膜和/或门静脉血栓形成患者进行了一项回顾性观察性研究，研究时间为 7 年。对原发性血栓形成患者进行遗传性血栓形成倾向研究和 JAK2V617F 突变筛查。
共有 123 例患者以肠系膜和/或门静脉血栓形成为主要出院诊断。60 例（49%）为原发性肠系膜或门静脉血栓形成（无继发原因）。SVT 患者中遗传性血栓形成和 MPN 的诊断率分别为 21.6%和 43.3%。20 例 SVT 患者仍未明确病因诊断。在 MPN 患者中，几乎所有患者均存在 JAK2V617F 突变（92.3%）。约 16%的 JAK2V617F 突变阳性患者不符合 MPN 诊断标准。
在本智利队列中，一半的肠系膜或门静脉血栓形成无继发性原因。在这一组中，主要原因是 MPN 和遗传性血栓形成倾向。几乎所有 MPN 患者都存在 JAK2V617F 突变，但有一组患者存在 JAK2V617F 突变但不符合 MPN 标准。
