本文選題：骨髓增殖性腫瘤 + 等位基因特異性PCR　； 參考：《大連醫(yī)科大學(xué)》2015年碩士論文

【摘要】：目的：研究JAK2V617F基因突變在骨髓增殖性腫瘤(MPN)中的發(fā)生率,與臨床特征、實(shí)驗室指標(biāo)間的相關(guān)性。方法：回顧統(tǒng)計分析2011年8月24日至2014年9月29日大連醫(yī)科大學(xué)附屬第一醫(yī)院92例MPN初治患者的臨床特征及實(shí)驗室檢查資料,包括真性紅細(xì)胞增多癥(PV)25例、原發(fā)性血小板增多癥(ET)44例、特發(fā)性骨髓纖維化(PMF)17例、慢性粒細(xì)胞白血病(CML)6例；采用等位基因特異性聚合酶鏈反應(yīng)(AS-PCR)方法檢測MPN患者JAK2V617F基因突變的發(fā)生情況,分析JAK2V617F基因突變的發(fā)生與患者的年齡、性別、標(biāo)本類型(外周血、骨髓)、染色體核型及分裂相、外周血細(xì)胞計數(shù)(白細(xì)胞、紅細(xì)胞、血紅蛋白及血小板)、彩超引導(dǎo)下肝脾腫大情況及LDH水平的關(guān)系。結(jié)果：1、92例MPN患者中JAK2V617F基因突變陽性67例,陰性25例,突變率為72.82%,JAK2V617F基因突變在PV、ET、PMF中發(fā)生率分別為88%、77.3%、64.7%,PV的突變率較ET、PMF有統(tǒng)計學(xué)顯著差異(P0.05),CML患者JAK2V617F基因突變均為陰性。2、JAK2V617F基因突變陽性患者外周血細(xì)胞計數(shù)較陰性者高,PV組基因突變陽性患者血小板計數(shù)明顯較陰性者高：ET組基因突變陽性患者紅細(xì)胞及血紅蛋白計數(shù)明顯較陰性者高；PMF組基因突變陽性患者白細(xì)胞計數(shù)明顯較陰性者高。3、JAK2V617F基因突變陰性及陽性在性別、標(biāo)本類型中有統(tǒng)計學(xué)顯著性差異(P0.05),女性突變率高于男性,外周血標(biāo)本基因突變檢出率高于骨髓標(biāo)本；性別、平均年齡在三種疾病中無統(tǒng)計學(xué)差異。4、染色體分裂相及核異型性、LDH水平及肝脾增大與JAK2V617F基因突變無相關(guān)性,而LDH水平、脾增大在PV、ET、PMF三種疾病也無統(tǒng)計學(xué)差異。5、比較60歲及≥60歲JAK2V617F基因在三種疾病中突變率,無統(tǒng)計學(xué)差異。6、三種疾病中75例患者行染色體核型及分裂相檢查(除6例CML患者固有異常染色體核型),染色體核型異常者7例,總發(fā)生率為9.33%,其中PV為14.29%、ET為71.43%、PMF為14.29%；而JAK2V617F基因突變2例,陽性率為28.57%。68例染色體核型正常者JAK2V617F基因突變56例,陽性率82.35%。7、行BCR/ABL融合基因檢查者(實(shí)時定量PCR)共計17例,4例融合基因表達(dá)者JAK2V617F基因突變均陰性,余13例融合基因未表達(dá)者均為經(jīng)典MPN其他三種疾病。結(jié)論：JAK2V617F基因檢測突變均發(fā)生在PV、ET、PMF患者中,以PV基因突變發(fā)生率最高,且較ET及PMF有統(tǒng)計學(xué)顯著差異。JAK2V617F基因檢測有助于MPN的診斷、鑒別及早期臨床干預(yù)治療,預(yù)防并發(fā)癥,提高生存時間及生活質(zhì)量。AS-PCR方法檢測JAK2V617F基因突變方法簡單,靈敏度高,結(jié)果可信,宜推廣臨床應(yīng)用。JAK2V617F基因突變陽性者外周血細(xì)胞計數(shù)較陰性者高。JAK2V617F基因突變的檢測與標(biāo)本類型及性別有關(guān),與年齡、染色體分裂相及異常核型、脾腫大、LDH水平無相關(guān)性。BCR/ABL融合基因表達(dá)者均未見JAK2V617F基因突變陽性。
[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，

本文編號：2060417