新疆地区非小细胞肺癌患者EGFR基因突变分析

Yi Shi, X. Pang, Zhiping Ma, W. Cui, Yuqing Ma, Wei Zhang
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摘要

表皮生长因子受体(EGFR)是一种酪氨酸激酶受体(RTK),它将细胞外信号与细胞存活、生长、增殖和分化的控制联系起来。由于EGFR频繁的高激活,已成为人类恶性肿瘤的治疗靶点,因此有必要研究EGFR突变的特征,并确定可能从EGFR突变中获益的患者。本研究采用ARMS-PCR方法对2013 - 2017年新疆医科大学第一附属医院病理科766例非小细胞肺癌(NSCLC)患者(675例组织标本、83例胸腔积水标本和8例血浆标本)进行检测。进一步探讨EGFR突变与临床病理特征的相关性。根据种族、组织学类型、样本类型和肿瘤分级进行亚组分析。亚组分析显示,肿瘤组织、胸腔积水和血浆的突变率分别为30.5%、37.3%和50.0%。我们发现女性(p < 0.0001)、不吸烟(p < 0.001)、腺癌(p < 0.0001)和组织标本(吸烟)与较高的EGFR突变率相关。最常见的突变是外显子19缺失(47.30%)和L858R点突变(42.32%)。我们没有发现EGFR突变和种族之间的任何差异。此外,我们没有发现常见突变和罕见敏感突变在靶向治疗的生存率方面存在差异。
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Mutation Analysis of EGFR Gene in Patients with Non-Small Cell Lung Cancer in Xinjiang
The epidermal growth factor receptor (EGFR) is a receptor tyrosine kinase (RTK) that links extracellular signals to the control of cell survival, growth, proliferation and differentiation. EGFR has been a therapeutic target for human malignancies, due to its frequent hyperactivation, therefore, it is necessary to investigate the characteristics of EGFR mutation, and identify patients who are likely to benefit from EGFR mutation. In this study, we examined 766 non-small cell lung cancer (NSCLC) patients (675 tissue, 83 thoracic water precipitation and 8 plasma samples) tested in pathology department of First Affiliated Hospital of Xinjiang Medical University from 2013 to 2017 by using ARMS-PCR method. The correlation between EGFR mutations and clinical pathological features was further explored. Subgroup analyses according to ethnicity, histological type, sample type, and tumour grade were done. Subgroup analyses showed the mutation rate of tumor tissue, thoracic water precipitation and plasm was 30.5%, 37.3%, 50.0% respectively. We found female (p < 0.0001), no smoking (p < 0.001), adenocarcinoma (p < 0.0001), and tissue specimens (Tobacco use) were associated with higher EGFR mutation rate. The most common mutations were exon 19 deletions (47.30%) and L858R point (42.32%) mutation. We have not found any differences between EGFR mutations and ethnic groups especially. In addition, we did not find differences in common mutations and rare sensitive mutations in the survival of targeted therapies.
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