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目的探讨中国人非小细胞肺癌表皮生长因子受体(EGFR)第18、19、21外显子基因突变状态。方法32例病理证实的非小细胞肺癌组织标本,通过模板DNA提取、定量和Touchdown PCR扩增EGFR exon 18、19、21序列,进行正、负链基因测序分析,并与10例非小细胞肺癌患者血液标本对照。结果32例非小细胞肺癌组织发现7例共9种突变,即已报道的5例19外显子缺失和未见报道的21exon T>G(L833V)及A>T(H835L)杂合性突变,另有2例内含子多态改变。中国人非小细胞肺癌突变率为28．1％(9／32),肺腺癌突变率为31．6％(6／19)。结论中国人非小细胞肺癌的EGFR突变率与已报道的亚洲人女性肺腺癌的突变率相似,但存在中国人自身新的突变位点(L833V和H835L)及内含子改变,该突变率与国内易瑞沙治疗非小细胞肺癌有效率基本吻合。
Objective To investigate the mutation status of exon 18, 19 and 21 of epidermal growth factor receptor (EGFR) in Chinese non-small cell lung cancer. Methods 32 cases of pathologically confirmed non-small cell lung cancer tissue samples were amplified by template DNA, amplified and sequenced by Touchdown PCR. EGFR exon 18, 19 and 21 were sequenced and sequenced. Ten non-small cell lung cancer Patient blood sample control. Results A total of 7 mutations were found in 7 cases of non-small cell lung cancer, including 5 cases of exon 19 deletions and 21 cases of heterozygous mutation of 21exon T> G (L833V) and A> T (H835L) , And two other intron polymorphisms changed. The mutation rate of Chinese non-small cell lung cancer was 28.1% (9/32) and that of lung adenocarcinoma was 31.6% (6/19). Conclusions The mutation rate of EGFR in Chinese non-small cell lung cancer is similar to that reported in Asian women with lung adenocarcinoma, but there are some new mutation sites (L833V and H835L) and intron changes in Chinese people. The mutation rate And domestic Iressa treatment of non-small cell lung cancer efficiency basically consistent.