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目的探讨骨髓增殖性肿瘤(MPN)患者JAK2-V617F点突变发生情况及其与脑梗死之间的相关性。方法回顾性统计分析68例MPN患者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JAK2-V617F点突变发生情况,结合JAK2-V617F点突变阳性与阴性二组患者脑梗死发生情况,探讨该基因与脑梗死之间的相关性。对照高血压引发脑梗死,探讨MPN引发脑梗死的特点。结果①68例MPN患者中共检出39例患者存在JAK2-V617F突变,总突变率为57.4%。②68例MPN患者中脑梗死发生率为47.0%(32/68),其中真性红细胞增多症(PV)组为41.4%(12/29),原发性血小板增多症(ET)组为51.3%(20/39),二组间χ2=0.655,P>0.05。32例脑梗死患者中,JAK2V617F阳性患者23例,阴性患者9例,二组间χ2=5.212,P<0.05。37例年龄≥60岁患者中23例并发脑梗死(62.2%),31例年龄<60岁者中9例并发脑梗死(29.0%),二组间比较χ2=7.431,P<0.01。③MPN以腔隙性脑梗死为主,好发部位与高血压引相同,23例基因阳性者中多发梗死21人,9例基因阴性者中多发梗死4例,二组间χ2=8.312,P<0.01。④随诊30例口服羟基脲及阿司匹林的梗死患者,使血细胞降至理想范围,跟踪1年余均未再发血栓。结论 MPN患者JAK2-V617F点突变发生率较高,JAK2-V617F阳性及高龄(≥60)患者易并发脑梗死,基因表达阳性患者更易发生多发性腔隙性脑梗死,口服羟基脲联合阿司匹林可有效预防再梗。
Objective To investigate the incidence of JAK2-V617F point mutation in patients with myeloproliferative neoplasm (MPN) and its relationship with cerebral infarction. Methods The clinical and laboratory data of 68 patients with MPN were retrospectively analyzed. The occurrence of point mutation of JAK2-V617F in MPN patients was detected by allele-specific polymerase chain reaction (AS-PCR) and sequence determination. The combination of JAK2- V617F point mutation positive and negative two groups of patients with cerebral infarction, to explore the gene and the correlation between cerebral infarction. Controlled hypertension triggered cerebral infarction, explore the characteristics of MPN-induced cerebral infarction. Results ① There were 39 JAK2-V617F mutations detected in 68 MPN patients, with a total mutation rate of 57.4%. ② The incidence of middle cerebral infarction in 68 patients with MPN was 47.0% (32/68), including 41.4% (12/29) in polycythemia vera group, 51.3% in primary thrombocythemia group (ET) 20/39), χ2 = 0.655 between the two groups, P> 0.05. Among the 32 patients with cerebral infarction, 23 were positive for JAK2V617F, 9 were negative, χ2 = 5.212, P <0.05, 37 were more than or equal to 60 23 patients (62.2%) were complicated by cerebral infarction (62.2%). Nine of 31 patients <60 years old had cerebral infarction (29.0%). The difference between the two groups was χ2 = 7.431, P <0.01. ③MPN lacunar infarction, predilection sites and hypertension lead to the same, 23 cases of gene-positive in 21 cases of multiple infarcts, 9 cases of gene-negative in 4 cases of multiple infarcts, the two groups χ2 = 8.312, P < 0.01. ④ Follow-up of 30 patients with oxytocin and aspirin infarction, blood cells down to the desired range, tracking more than 1 year were no recurrence of thrombus. Conclusions The incidence of JAK2-V617F point mutation in MPN patients is higher than that in JAK2-V617F positive patients and elderly patients (≥60 patients), multiple generative lacunar infarcts are more likely to occur in patients with positive gene expression, and oral administration of hydroxyurea plus aspirin is effective Prevention of further infarction.