EGFR突变在Ⅰ期非小细胞肺癌患者中的分布趋势
Distribution and clinical significance of EGFR mutations in phase Ⅰ non-small-cell lung cancer
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).
更多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.
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