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背景与目的表皮生长因子受体(epidermal growth factor receptor,EGFR)和KRAS基因是非小细胞肺癌(non-small cell lung cancer,NSCLC)重要的分子靶点,但目前研究主要集中在晚期NSCLC组织和血浆标本的EGFR检测,早期NSCLC组织样本中EGFR和KRAS突变特征尚不清楚。本研究将探讨I期-IIIa期NSCLC EGFR和KRAS基因突变与相关临床病理特征的关系。方法采用突变扩增系统(amplification refractory mutation system,ARMS)PCR方法检测北京协和医院病理科提供的754例I期-IIIa期NSCLC组织样本的EGFR和KRAS基因突变状况,分析基因突变率及其与临床病理特征的关系。结果 EGFR和KRAS基因热点突变的突变率分别为34.5%和13.1%,其中有3例样本具有EGFR和KRAS基因的双突变。EGFR基因在女性中的突变率高于男性(39.5%vs 29.4%,P=0.076),在腺癌中的突变率(38.7%)高于鳞癌、腺鳞癌、大细胞癌(P<0.01),但仍明显低于其他研究报道的亚裔晚期腺癌突变率(-50%)。KRAS基因突变在男性中的突变率高于女性(16.6%vs 9%,P=0.048),且在腺癌中的突变率也高于其他类型,但差异不显著(P=0.268)。与KRAS基因突变阳性组相比,EGFR基因突变阳性组在年龄分布上有年轻化的趋势(P=0.031,5),在性别分布上有显著性差异(P<0.01)。结论 I期-IIIa期NSCLC EGFR基因突变率较晚期患者低,且EGFR和KRAS基因双突变的发生率为0.9%。
BACKGROUND & OBJECTIVE: Epidermal growth factor receptor (EGFR) and KRAS gene are important molecular targets of non-small cell lung cancer (NSCLC). However, the current research mainly focuses on the tissue and plasma of advanced NSCLC Specimens of EGFR detection, EGFR and KRAS mutations in early NSCLC tissue samples is not yet clear. This study will investigate the relationship between EGFR and KRAS gene mutations in stage I-IIIa NSCLC and related clinicopathological features. Methods Mutations of EGFR and KRAS genes in 754 cases of Stage I-IIIa NSCLC samples from Peking Union Medical College Hospital were detected by amplification refractory mutation system (ARMS) PCR method. Pathological characteristics of the relationship. Results The mutation rates of EGFR and KRAS genes were 34.5% and 13.1% respectively, of which 3 samples had double mutations of EGFR and KRAS genes. The mutation rate of EGFR gene in women was higher than that in men (39.5% vs 29.4%, P = 0.076). The mutation rate in adenocarcinoma (38.7%) was higher than that in squamous cell carcinoma, adenosquamous carcinoma and large cell carcinoma ), But still significantly lower than other studies reported in Asian advanced adenocarcinoma mutation rate (-50%). The mutation rate of KRAS gene mutation in males was higher than that in females (16.6% vs 9%, P = 0.048), and the mutation rate in adenocarcinoma was also higher than other types, but the difference was not significant (P = 0.268). Compared with the positive KRAS gene mutation group, the positive EGFR gene mutation group showed a younger age distribution (P = 0.031,5), and there was a significant difference in gender distribution (P <0.01). Conclusion The mutation rate of EGFR gene in Stage I-IIIa NSCLC is lower than that in advanced stage, and the incidence of double mutation of EGFR and KRAS gene is 0.9%.