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非小細(xì)胞肺癌EGFR基因突變分析

發(fā)布時(shí)間:2018-03-17 12:02

  本文選題:非小細(xì)胞肺癌 切入點(diǎn):表皮生長因子受體基因檢測 出處:《皖南醫(yī)學(xué)院》2016年碩士論文 論文類型:學(xué)位論文


【摘要】:目的:探索蕪湖地區(qū)非小細(xì)胞肺癌患者表皮生長因子受體(EGFR)基因突變類型、突變位點(diǎn)、突變頻率及其與臨床病理特征的相關(guān)性。方法:收集皖南醫(yī)學(xué)院第一附屬醫(yī)院2013年10月至2015年10月之間167例非小細(xì)胞肺癌患者石蠟包埋組織,用突變擴(kuò)增阻滯系統(tǒng)(ARMS)法進(jìn)行EGFR基因18~21外顯子及S768I、T790M突變的檢測,并分析EGFR基因突變類型、突變位點(diǎn)、突變頻率及其與臨床病理特征的相關(guān)性。結(jié)果:167例非小細(xì)胞肺癌標(biāo)本中有87例檢測出EGFR基因突變陽性,總檢出率52.10%。突變類型包括Exon18的突變率為5.75%(5/87)、Exon19的突變率為48.38%(42/87)、Exon20的突變率為4.6%(4/87)、Exon21的突變率為37.93%(33/87)、S768I的突變率為1.15%(1/87)、T790M突變率為1.15%(1/87)、雙突變率為2.30%(2/87),有1例19和21外顯子雙突變,有1例21外顯子和T790M雙突變。女性患者突變率(72.86%)較男性患者突變率(37.11%)高,二者差異有統(tǒng)計(jì)學(xué)意義(P=0.000);不吸煙患者突變率(68.48%)較吸煙患者突變率(32.00%)高,二者差異有統(tǒng)計(jì)學(xué)意義(P=0.000);腫瘤病理學(xué)類型為腺癌患者突變率(57.75%)較非腺癌患者突變率(20.00%)高,二者差異有統(tǒng)計(jì)學(xué)意義(P=0.001);年齡≥60歲患者突變率(51.40%)較年齡60歲患者突變率(47.76%)高,二者差異無統(tǒng)計(jì)學(xué)意義(P=0.811);高分化腫瘤組織突變率為57.14%、中分化腫瘤組織突變率為57.69%、低分化腫瘤組織突變率為35.90%,三者之間差異無統(tǒng)計(jì)學(xué)意義(P=0.065);活檢組織標(biāo)本突變率為51.61%、手術(shù)標(biāo)本突變率為53.85%、細(xì)胞標(biāo)本突變率為52.94%,三者之間差異無統(tǒng)計(jì)學(xué)意義(P=0.976)。結(jié)論:EGFR基因突變位點(diǎn)多見于Exon19、Exon21,臨床多見于女性、不吸煙、腺癌患者。其突變陽性率與年齡、腫瘤組織分化程度及標(biāo)本來源無關(guān)。
[Abstract]:Objective: to explore the mutation type and mutation site of epidermal growth factor receptor (EGFR) gene in patients with non-small cell lung cancer (NSCLC) in Wuhu area. Methods: the paraffin embedded tissues of 167 patients with NSCLC from October 2013 to October 2015 were collected from the first affiliated Hospital of Southern Anhui Medical College. Mutation amplification block system (AMS) was used to detect the mutations of exon 18F21 of EGFR gene and S768IXT790M, and to analyze the mutation type and mutation site of EGFR gene. Results the mutation frequency and its correlation with clinicopathological features were detected in 87 out of 167 non-small cell lung cancer specimens, and EGFR gene mutation was detected in 87 out of 167 non-small cell lung cancer specimens. The total detection rate was 52.10.The type of mutation included Exon18 was 5.75% 587% Exon19 mutation rate was 48.38% 4287% exon20 mutation rate was 4.66% 487% exon 21 mutation rate was 37.93% 873% 87S768I mutation rate was 1.151r-87% T790M mutation rate was 1.15187% T 790M mutation rate was 1.15187%, double mutation rate was 2.30% 2 / 87%, there were 1 case 19 and 21 exon double mutation. In one case, the mutation rate of exon 21 and T790M was 72.86) higher than that of male patients (P < 0.000), and the mutation rate of non-smoking patients (68.48%) was higher than that of smoking patients (32.00%). The difference between the two groups was statistically significant (P < 0.000); the mutation rate was 57.75% in patients with adenocarcinoma and 20.00% in non-adenocarcinoma patients, and the difference was statistically significant (P < 0.001). The mutation rate of patients aged 鈮,

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