CAJ | 학술논문

目的检测Ⅰ期非小细胞肺癌(NSCLC)患者表皮生长因子受体(EGFR)的突变情况,初步探讨EGFR突变的分布特征.方法收集272例术后病理为Ⅰ期非小细胞肺癌患者肿瘤组织标本,提取DNA,采用ARMS法对EGFR基因的第18、19、20及21外显子片段进行检测,根据阳性质控、阴性质控和DNA质控对EGFR突变类型分析判断.结果 272例Ⅰ期NSCLC患者肺癌组织中,154例(56.62％)存在EGFR的体细胞突变.其中,2例(1.3％)18号外显子上发生替代突变(G719S),53例(34.4％) 19号外显子上发生缺失突变(19-del),6例(3.9％)20号外显子上发生插入突变(20-ins),97例(63.9％) 21号外显子上发生替代突变(L858R).2个外显子同时突变11例.21外显子突变(敏药突变)合并20外显子突变(耐药突变)率(4/11,36.3％)显著高于19外显子突变(敏药突变)合并20外显子突变(耐药突变)率(1/11,9.1％),P＜0.05;肺腺癌的突变率(148/223,66.4％)显著高于肺鳞癌突变率(2/40,5％);肺腺鳞癌突变率(4/4,100％)显著高于肺腺癌、鳞癌和大细胞癌(0/5,0％)的突变率.结论 Ⅰ期NSCLC患者EGFR突变率56.62％,肺腺鳞癌、腺癌提示突变的高发性,EGFR突变多集中在19和21号外显子,21外显子突变比19外显子突变更易合并20外显子突变(耐药突变).
목적 검측Ⅰ기비소세포폐암(NSCLC)환자표피생장인자수체(EGFR)적돌변정황,초보탐토EGFR돌변적분포특정.방법 수집272례술후병리위Ⅰ기비소세포폐암환자종류조직표본,제취DNA,채용ARMS법대EGFR기인적제18、19、20급21외현자편단진행검측,근거양성질공、음성질공화DNA질공대EGFR돌변류형분석판단.결과 272례Ⅰ기NSCLC환자폐암조직중,154례(56.62％)존재EGFR적체세포돌변.기중,2례(1.3％)18호외현자상발생체대돌변(G719S),53례(34.4％) 19호외현자상발생결실돌변(19-del),6례(3.9％)20호외현자상발생삽입돌변(20-ins),97례(63.9％) 21호외현자상발생체대돌변(L858R).2개외현자동시돌변11례.21외현자돌변(민약돌변)합병20외현자돌변(내약돌변)솔(4/11,36.3％)현저고우19외현자돌변(민약돌변)합병20외현자돌변(내약돌변)솔(1/11,9.1％),P＜0.05;폐선암적돌변솔(148/223,66.4％)현저고우폐린암돌변솔(2/40,5％);폐선린암돌변솔(4/4,100％)현저고우폐선암、린암화대세포암(0/5,0％)적돌변솔.결론 Ⅰ기NSCLC환자EGFR돌변솔56.62％,폐선린암、선암제시돌변적고발성,EGFR돌변다집중재19화21호외현자,21외현자돌변비19외현자돌변경역합병20외현자돌변(내약돌변).
Objective To investigate the distribution and clinical significance of EGFR mutations in phase Ⅰ non-smallcell lung cancer(NSCLC).Methods We examined 272 consecutive phase Ⅰ NSCLC patients' tumor samples for EGFR mutations in exons 18,19,20 and 21 using the Amplification Refractory Mutation System(ARMS).Results 154 patients (56.62％)were identified with mutations in the series of 272.Of all the mutations identified,2 (1.3％) were aminoacidic substitutions (G719 S) in exon 18,53 (34.4 ％) were in frame deletions (19-del) in exon 19,6 (3.9 ％) were insertional mutations (20-ins) in exon 19 and 97 (63.9 ％) were aminoacidic substitutions (L858 R) in exon 21.There were 11 patients with coexisting mutations in other exons.The probability of the coexisting resistance mutations (20-ins) in exon 21 was significantly higher than that in exon 19 (P ＜ 0.05).Mutations in adenocarcinoma samples (148/223,66.4％) were more frequent than that in squamous carcinoma(2/40,5％),while mutations in adeno-squamous carcinoma were highest in all histologic types (P ＜ 0.05).Conclusion EGFR mutations in phase Ⅰ NSCLC in Shanghai and surrounding areas were 56.62％.Mutations were more frequent in particular histologic types,e.g.adenocarcinoma and adeno-squamous carcinoma.Exon 19 deletion mutations and the substitution mutation L858R in exon 21 are the most frequent in NSCLC.And the probability of coexisting 20-ins mutations in exon 21 was significantly higher than which in exon 19.