92例骨髓增殖性肿瘤JAK2V617F基因的检测及其临床意义

发布时间：2018-06-24 06:29

  本文选题：骨髓增殖性肿瘤 + 等位基因特异性PCR　； 参考：《大连医科大学》2015年硕士论文

【摘要】：目的：研究JAK2V617F基因突变在骨髓增殖性肿瘤(MPN)中的发生率,与临床特征、实验室指标间的相关性。方法：回顾统计分析2011年8月24日至2014年9月29日大连医科大学附属第一医院92例MPN初治患者的临床特征及实验室检查资料,包括真性红细胞增多症(PV)25例、原发性血小板增多症(ET)44例、特发性骨髓纤维化(PMF)17例、慢性粒细胞白血病(CML)6例；采用等位基因特异性聚合酶链反应(AS-PCR)方法检测MPN患者JAK2V617F基因突变的发生情况,分析JAK2V617F基因突变的发生与患者的年龄、性别、标本类型(外周血、骨髓)、染色体核型及分裂相、外周血细胞计数(白细胞、红细胞、血红蛋白及血小板)、彩超引导下肝脾肿大情况及LDH水平的关系。结果：1、92例MPN患者中JAK2V617F基因突变阳性67例,阴性25例,突变率为72.82%,JAK2V617F基因突变在PV、ET、PMF中发生率分别为88%、77.3%、64.7%,PV的突变率较ET、PMF有统计学显著差异(P0.05),CML患者JAK2V617F基因突变均为阴性。2、JAK2V617F基因突变阳性患者外周血细胞计数较阴性者高,PV组基因突变阳性患者血小板计数明显较阴性者高：ET组基因突变阳性患者红细胞及血红蛋白计数明显较阴性者高；PMF组基因突变阳性患者白细胞计数明显较阴性者高。3、JAK2V617F基因突变阴性及阳性在性别、标本类型中有统计学显著性差异(P0.05),女性突变率高于男性,外周血标本基因突变检出率高于骨髓标本；性别、平均年龄在三种疾病中无统计学差异。4、染色体分裂相及核异型性、LDH水平及肝脾增大与JAK2V617F基因突变无相关性,而LDH水平、脾增大在PV、ET、PMF三种疾病也无统计学差异。5、比较60岁及≥60岁JAK2V617F基因在三种疾病中突变率,无统计学差异。6、三种疾病中75例患者行染色体核型及分裂相检查(除6例CML患者固有异常染色体核型),染色体核型异常者7例,总发生率为9.33%,其中PV为14.29%、ET为71.43%、PMF为14.29%；而JAK2V617F基因突变2例,阳性率为28.57%。68例染色体核型正常者JAK2V617F基因突变56例,阳性率82.35%。7、行BCR/ABL融合基因检查者(实时定量PCR)共计17例,4例融合基因表达者JAK2V617F基因突变均阴性,余13例融合基因未表达者均为经典MPN其他三种疾病。结论：JAK2V617F基因检测突变均发生在PV、ET、PMF患者中,以PV基因突变发生率最高,且较ET及PMF有统计学显著差异。JAK2V617F基因检测有助于MPN的诊断、鉴别及早期临床干预治疗,预防并发症,提高生存时间及生活质量。AS-PCR方法检测JAK2V617F基因突变方法简单,灵敏度高,结果可信,宜推广临床应用。JAK2V617F基因突变阳性者外周血细胞计数较阴性者高。JAK2V617F基因突变的检测与标本类型及性别有关,与年龄、染色体分裂相及异常核型、脾肿大、LDH水平无相关性。BCR/ABL融合基因表达者均未见JAK2V617F基因突变阳性。
[Abstract]:Objective: to study the incidence of JAK2V617F gene mutation in bone marrow proliferative tumor (MPN) and its correlation with clinical features and laboratory parameters. Methods: the clinical features and laboratory data of 92 patients with MPN, including 25 patients with polycythemia vera (PV), were retrospectively analyzed from August 24, 2011 to September 29, 2014 in the first affiliated Hospital of Dalian Medical University. 44 cases of primary thrombocytopenia (et), 17 cases of idiopathic myelofibrosis (PMF) and 6 cases of chronic myeloid leukemia (CML) were detected by allele-specific polymerase chain reaction (AS-PCR) in order to detect the occurrence of JAK2V617F gene mutation in MPN patients. To analyze the occurrence of JAK2V617F gene mutation and the age, sex, specimen type (peripheral blood, bone marrow), chromosome karyotype and mitotic phase, peripheral blood cell count (WBC, RBC), Hemoglobin and platelet), color ultrasound guided hepatosplenomegaly and LDH level. Results among 92 patients with MPN, 67 were positive for JAK2V617F gene mutation, and 25 were negative for JAK2V617F gene mutation. The mutation rate of JAK2V617F gene was 88.77.3and 64.7PV was significantly higher than that of ET-PMF in patients with CML (P0.05). The number of peripheral blood cells in patients with positive mutation of JAK2V617F gene in CML was higher than that in patients with negative mutation of JAK2V617F gene (P0.05) the number of peripheral blood cells of patients with positive mutation of JAK2V617F gene was higher than that of patients with negative mutation of JAK2V617F gene. The platelet count in patients with mutation positive was significantly higher than that in patients with negative et gene mutation. The counts of erythrocyte and hemoglobin in patients with positive mutation of et gene were significantly higher than those in patients with negative mutation. The white blood cell count of the patients with positive mutation of PMF gene was significantly higher than that of the negative group. The mutation negative and positive of JAK2V617F gene in PMF group were significantly higher than those in the negative group (P0.05), and the mutation rate of female was higher than that of male. The detection rate of gene mutation in peripheral blood samples was higher than that in bone marrow samples, there was no significant difference in sex and average age among the three diseases. There was no correlation between the level of LDH in chromosome division phase and nuclear heteromorphism and the enlargement of liver and spleen, but the level of LDH was not correlated with JAK2V617F gene mutation. There was no significant difference among the three diseases of splenomegaly in PVN ETF. 5. The mutation rate of JAK2V617F gene was compared between 60 and 鈮，

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