Background and objective: Epidermal growth factor receptor (EGFR), a transmembrane protein, is a member of the tyrosine kinase family. Gefitinib, an EGFR tyrosine-kinase inhibitors, has shown a high response rate in the treatment of lung cancer in patients with EGFR mutation. However, significant differences in EGFR mutations exist among different ethnic groups. The aim of this study is to investigate the prevalence of EGFR mutations in Uighur lung adenocarcinoma patients by using a rapid and sensitive detection method and to analyze EGFR mutation differences compared with Han lung adenocarcinoma patients.
Methods: We examined lung adenocarcinoma tissues from 138 patients, including 68 Uighur lung adenocarcinoma patients and 70 Han lung adenocarcinoma patients, for EGFR mutations in exons 18, 19, 20, and 21 by using the amplification refractory mutation system (ARMS) PCR method. The mutation differences between Uighur and Han lung adenocarcinoma were compared by using the chi-square test method.
Results: EGFR mutations were detected in 43 (31.2%) of the 138 lung adenocarcinoma patients. EGFR mutations were detected in 11 (16.2%) of the 68 Uighur lung adenocarcinoma patients and in 32 (45.7%) of the 70 Han lung adenocarcinoma patients. Significant differences were observed in the EGFR mutations between Uighur lung adenocarcinoma patients and Han lung adenocarcinoma patients (P<0.001).
Conclusions: Our results indicate that the EGFR mutation in Uighur lung adenocarcinoma patients (16.2%) is significantly lower than that in Han lung adenocarcinoma patients (45.7%).
背景与目的: 表皮生长因子受体（epidermal growth factor receptor, EGFR）是一种跨细胞膜糖蛋白，属于受体型酪氨酸激酶家族。以吉非替尼为代表的EGFR酪氨酸激酶抑制剂对于EGFR突变的肺癌患者显示出良好的治疗效果，然而EGFR的突变率在不同民族和不同种族的人群中表现出较大差异。本研究旨在分析维吾尔族中肺腺癌患者肿瘤组织的EGFR基因突变情况，同时比较维吾尔族与汉族肺腺癌患者肿瘤组织EGFR基因突变率的差异性。
方法: 收集临床肺腺癌患者石蜡包埋组织标本138例，包括68例维吾尔族和70例汉族肺腺癌的样本，采用ARMS（amplification refractory mutation system, ARMS）PCR扩增方法检测EGFR基因外显子18、19、20及21的突变，χ2分析对比维吾尔族和汉族肺腺癌EGFR基因突变差异。
结果: 138例肺腺癌患者中有43例EGFR基因突变，总突变率为31.2%，其中维吾尔族突变11例，突变率为16.2%，汉族突变32例，突变率为45.7%，维吾尔族肺腺癌EGFR突变率与汉族肺腺癌EGFR突变率比较有明显差异（P < 0.001），突变以外显子19-del和L858R为主要突变点。
结论: 维吾尔族中肺腺癌EGFR基因突变率为16.2%，汉族中EGFR基因突变率为45.7%，维吾尔族肺腺癌EGFR突变率明显低于我国汉族EGFR基因突变。