Sozer Selcuk, Hoffman Ronald
Research Institute for Experimental Medicine (DETAE), Istanbul University, Istanbul, Turkey.
Methods Mol Biol. 2011;755:405-15. doi: 10.1007/978-1-61779-163-5_34.
Myeloproliferative neoplasms (MPN) are clonal hematological malignancies that are frequently -associated with an acquired somatic mutation in JAK2 (JAK2V617F). Patients with MPN are at a high risk of developing thrombotic events. Endothelial cell (EC) abnormalities are thought to contribute to this prothrombotic state. Budd-Chiari syndrome (BCS) and portal vein thromboses have been reported to be associated with JAK2V617F positive hematopoiesis. We explored whether JAK2V617F was present in ECs within the vessels of polycythemia vera (PV) patients with BCS using laser-capture microdissection followed by nested PCR or real-time RT-PCR. The presence of JAK2V617F in both ECs and hematopoietic cells belonging to BCS patients with PV indicates that ECs from these patients are involved by the malignant process and that in this subpopulation of patients the disease may originate from a cell common to hematopoietic and endothelial cells.
骨髓增殖性肿瘤（MPN）是一类克隆性血液系统恶性肿瘤，常与JAK2基因（JAK2V617F）的获得性体细胞突变相关。MPN患者发生血栓事件的风险很高。内皮细胞（EC）异常被认为是导致这种血栓前状态的原因。据报道，布加综合征（BCS）和门静脉血栓形成与JAK2V617F阳性造血有关。我们采用激光捕获显微切割技术，随后进行巢式PCR或实时逆转录PCR，探讨BCS的真性红细胞增多症（PV）患者血管内的EC中是否存在JAK2V617F。BCS的PV患者的EC和造血细胞中均存在JAK2V617F，这表明这些患者的EC参与了恶性过程，并且在这一亚组患者中，疾病可能起源于造血细胞和内皮细胞的共同前体细胞。
