Analysis of EGFR Gene Mutations in Lung Adenocarcinoma in Karamay, Xinjiang

Yuhua Ma, Yuanxin Li, Min Jiang, Jing Gao, Yining Lai, Kamila Kulaixijiang, Min Zhu, Fei Liang
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Abstract

To investigate the mutation types and mutation rate of the epidermal growth factor receptor (EGFR) gene in patients with lung adenocarcinoma and the clinical features of lung adenocarcinoma with EGFR gene mutations in Karamay, Xinjiang, China. Paraffin-embedded tissue samples of adenocarcinoma patients were collected in the Karamay Central Hospital from March 2016 to June 2019, and mutations in exon 18–21 of the EGFR gene were detected by the allele-specific amplification polymerase chain reaction (Amplification Refractory Mutation System–PCR) method. The relationships between the mutation types, mutation incidence, and clinical features were analyzed. Of the 170 patients with lung adenocarcinoma, 83 had EGFR mutations. The total mutation rate of EGFR in patients with lung adenocarcinoma was 48.8%, which included mutations in exons 18 (1.2% [2/170]), 19 (19.4% [33/170]), 20 (2.4% [4/170]), and 21 (20.6% [35/170]). Intriguingly, there was a case with 9 mutations in exons 20 and 21. The mutations in exon 19 of EGFR resulted in the deletion of codons 746 to 750. The main mutation in exon 21 was L858R (91.4% [32/35]). There was no significant difference in exons 19 and 21 mutation rates (P > 0.05). The mutation rate of EGFR in female patients was significantly higher than that in male patients (P < 0.05) but had no correlation with the age, smoking status, and clinical stage of patients with non–small cell lung cancer (P > 0.05). The EGFR mutation rate may be related to the degree of tumor differentiation. Among patients with lung adenocarcinoma in Kelamayi (city in Xinjiang), EGFR mutations were more frequently detected in female patients, and the main sites of mutations were exons 19 and 21.
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新疆克拉玛依肺腺癌表皮生长因子受体基因突变分析
目的 探讨中国新疆克拉玛依肺腺癌患者表皮生长因子受体(EGFR)基因的突变类型和突变率,以及EGFR基因突变肺腺癌的临床特征。 2016年3月至2019年6月在克拉玛依市中心医院采集腺癌患者石蜡包埋组织样本,采用等位基因特异性扩增聚合酶链反应(扩增难治性突变系统-PCR)方法检测EGFR基因18-21外显子突变。分析了突变类型、突变发生率和临床特征之间的关系。 在170例肺腺癌患者中,有83例发生了表皮生长因子受体突变。肺腺癌患者的表皮生长因子受体总突变率为48.8%,其中包括18号外显子突变(1.2% [2/170])、19号外显子突变(19.4% [33/170])、20号外显子突变(2.4% [4/170])和21号外显子突变(20.6% [35/170])。耐人寻味的是,有一个病例的第 20 和 21 号外显子出现了 9 个突变。表皮生长因子受体 19 号外显子的突变导致 746 至 750 号密码子缺失。第 21 号外显子的主要突变是 L858R(91.4% [32/35])。第 19 和 21 号外显子的突变率无明显差异(P > 0.05)。女性患者的表皮生长因子受体突变率明显高于男性患者(P < 0.05),但与非小细胞肺癌患者的年龄、吸烟状况和临床分期无相关性(P > 0.05)。表皮生长因子受体突变率可能与肿瘤的分化程度有关。 在新疆克拉玛依市的肺腺癌患者中,女性患者的表皮生长因子受体(EGFR)突变率较高,突变的主要位点是第19和21号外显子。
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