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目的:探讨JAK2V617F及MPLW515L/K点突变在骨髓增殖性肿瘤(MPN)患者中的发生情况及临床意义。方法:回顾性统计分析87例MPN患者的临床及实验室检查资料,应用等位基因特异性-聚合酶链反应(AS-PCR)及序列测定方法,检测MPN患者骨髓/外周血单个核细胞JAK2V617F及MPLW515L/K点突变的发生情况,结合JAK2V617F及MPLW515L/K点突变阳性与阴性2组患者的临床及实验室检查指标,探讨其在疾病诊断及分子发病机制中的意义。结果:87例MPN患者[真性红细胞增多症(PV)36例,原发性血小板增多症(ET)33例,原发性骨髓纤维化(PMF)18例]中共检出55例患者存在JAK2V617F突变,总突变率为63.2%(55/87),其中PV28例,突变率77.8%(28/36);ET17例,突变率51.5%(17/33);PMF10例,突变率55.6%(10/18)。JAK2V617F阳性PV和ET患者WBC及Hb水平高于阴性患者(P<0.05);JAK2V617F阳性PMF患者WBC及PLT高于阴性患者(P<0.05)。JAK2V617F阳性MPN患者血栓发生率高于阴性患者(P<0.05)。24例JAK2阴性的ET及PMF患者中未能检测到MPLW515L/K。结论:MPN患者JAK2V617F发生率较高,JAK2V617F阳性MPN患者血细胞计数高于阴性患者,更易罹患血栓栓塞。
Objective: To investigate the occurrence and clinical significance of JAK2V617F and MPLW515L / K point mutation in patients with myeloproliferative neoplasm (MPN). Methods: The clinical and laboratory data of 87 MPN patients were retrospectively analyzed. The expression of JAK2V617F in bone marrow / peripheral blood mononuclear cells of MPN patients was detected by allele-specific polymerase chain reaction (AS-PCR) and sequence analysis And point mutations of MPLW515L / K in combination with the clinical and laboratory indexes of JAK2V617F and MPLW515L / K point-mutation positive and negative patients to explore its significance in disease diagnosis and molecular pathogenesis. Results: There were 55 JAK2V617F mutations detected in 87 patients with MPN [polycythemia vera (PV), 36 cases, primary thrombocythemia (ET) 33, primary myelofibrosis (PMF) 18) , The total mutation rate was 63.2% (55/87), of which PV28 cases, the mutation rate was 77.8% (28/36); ET17 cases, the mutation rate was 51.5% (17/33); PMF10 cases, the mutation rate was 55.6% 18). The WBC and Hb levels in JAK2V617F positive PV and ET patients were higher than those in negative patients (P <0.05). The WBC and PLT in JAK2V617F positive PMF patients were higher than those in negative patients (P <0.05). The incidence of thrombosis in JAK2V617F positive MPN patients was higher than that in negative patients (P <0.05). No MPLW515L / K was detected in 24 JAK2 negative ET and PMF patients. Conclusion: The incidence of JAK2V617F is high in patients with MPN. The blood count of JAK2V617F-positive patients with MPN is higher than that of patients with negative MPN. It is more likely to have thromboembolism.