摘要
目的:针对表皮生长因子受体(EGFR)的分子靶向治疗越来越受到国内外的广泛关注,其中EGFR酪氨酸激酶抑制剂(TKI)Gefitinib和Erlotinib已在中国上市,批准用于治疗晚期非小细胞肺癌(NSCLC)。EG-FR突变是靶向药物TKI治疗有效的一个预测指标。有关我国非小细胞肺癌患者EGFR基因突变的研究已有若干报道,本文意在探讨中国北方地区非小细胞肺癌患者表皮生长因子受体(EGFR)基因外显子18-21的突变特点。方法:收集50例来自北方地区的非小细胞肺癌患者的冰冻组织标本,进行EGFR基因外显子18-21的突变检测。结果:50例非小细胞肺癌组织中共检出突变15例(30%),其中外显子19突变6例,均为缺失突变del E746-A750,外显子21突变9例,除1例为L861Q外,其它均为L858R替代突变。女性患者的突变率(12/23,52%)显著高于男性患者的突变率(3/27,11%),P=0.002;腺癌支气管肺泡癌患者的突变率(13/26,50%)显著高于鳞癌患者的突变率(2/20,10%),P=0.005;非吸烟者的突变率(10/25,40%)高于吸烟者的突变率(5/25,20%),但无显著性差异,P=0.217。与其它报道比较,结果显示北方地区EGFR基因突变的总体发生率与其他地区无显著性差异,外显子19、20、21发生突变所占的比例除云南更常见于外显子19,有显著性差异(P<0.05)外,与其他地区无显著性差异(P>0.05)。但北方地区突变的形式相对单一。结论:中国南北方地区非小细胞肺癌患者EGFR基因突变发生率及主要突变类型基本一致,北方地区突变类型较单一,可给予针对性的检测。
Objective：The epidermal growth factor receptor（EGFR） has emerged as an attractive therapeutic target. The EGFR tyrosine kinase inhibitors （TKIs）, erlotinib and gefitinib have already been on market in China for the treatment of advanced non - small cell lung cancer （ NSCLCs ）. EGFR mutation is an important predictor of response to TKI. Most data about Chinese EGFR mutation are from south region. This presentation is to analyze the incidence and profile of mutations of EGFR in North Chinese patients with NSCLC. Methods： Fresh frozen specimens of fifty north Chinese cases of NSCLC were collected,and mutations of exons 18, 19 ,20 and 21 of the EGFR were detected by PCR and gene sequencing. Results： Overall, we detected 15 EGFR mutations （30%） , including 6 cases of in - frame deletion del E746 - A750 in exonl9 and 9 cases of substitution in exon 21 （ all were L858R except one L861 Q）. Mutation rate was significantly higher in femal （12/23,52 % ）than in male（ 3/27,11% ）, P = 0. 002 , and significantly higher in andenocarcinoma and bronchioloalveolar cancer （13/26,50 % ）than in squamous cell carcinoma （2/20 , 10% ） ,P =0. 005. Mutation rate in non -smokers was not significantly higher than that in smokers （10/ 25,40% vs 5/25,20% ,P =0.217）. Compared with the data from other regions,we can see that there was no significant difference in the mutation profile among the patients from north and South China except Yunnan. Conclusion： The mutation profile of EGFR in north China was almost similar with that in south China. There were only two main kinds of mutation in the north, and we can detect them specially and simplely.
出处
《现代肿瘤医学》
CAS
2008年第4期553-556,共4页
Journal of Modern Oncology
关键词
表皮生长因子受体
非小细胞肺癌
基因突变
中国
epidermal growth factor receptor
non- small cell lung cancer
gene mutation
Chinese
