老年晚期非小细胞肺癌EGFR基因突变情况的研究

目的 通过检测非小细胞肺癌(NSCLC)的人表皮生长因子受体(EGFR)基因突变,以探讨老年晚期患者的EGFR突变类型及突变特征。方法 45例经CT引导下经皮肺穿刺术的NSCLC的病理组织标本,经基因测序法检测其EGFR基因突变情况,并对EGFR基因各外显子的突变类型进行统计分析。结果 45例NSCLC标本,EGFR基因突变率为37.8%,其中外显子19约占52.9%；外显子21占41.2%,两者合占基因总突变数的94.1%。外显子19突变主要发生在DNA链上的碱基序列第746～753位密码子上,均为碱基删除突变,其中,最常见的突变类型是del E746-A750；外显子20突变1例,突变发生在DNA链上的碱基序列第768位密码子上的错义突变；外显子21突变发生在DNA链上的碱基序列第848、858、861位密码子上的错义突变,而L858R是最常见类型。突变阳性率,男性22.7%,女性52.2%；吸烟者15.4%,非吸烟者46.9%；鳞癌14.2%,腺癌48.4%；Ⅲ期26.5%,Ⅳ期36.8%,EGFR基因突变率在性别比例、吸烟情况以及病理类型之间的比较,差异均有显著性学意义(P<0.05)；在肺癌分期的比较,差异无意义(P>0.05)。结论 (1)EGFR基因突变约占NSCLC总数的37.8%, 以外显子19、21突变为主。(2)EGFR主要突变类型为碱基删除突变、错义突变,大部分突变发生在女性、非吸烟、腺癌患者,其中,半数以上存在复合突变。

Association study of the mutations of EGFR gene in elderly patients with Advanced non-small cell lung cancerSHENG Jian-hui₁,HUANG Yu-lin₂,TIAN Ming-qing₁,JIANG Jian-yang₁

Objective In order to investigate the type and characteristics of the EGFR mutations in Elderly Advanced Lung Cancer,we researched epidermal growth factor receptor(EGFR) gene mutation of Non-small cell lung cancer(NSCLC). Methods The mutation and the type of EGFR exon were detected in 45 pathologic specimens which were collected from each NSCLC patients through Trasthoracic core needle biopsy,by means of genomic sequencing together with statistical analysis. Results In 45 cases of NSCLC specimens,the EGFR gene mutation rate was 37.8%,in which exon 19 (52.9%) and Exon 21 (41.2%) were accounted for,both of them occupied 94.1% totally.Exon 19 mutations occurred mainly in the DNA Strand nucleotide sequences beteen codon 746 to 753,all were base deletiong mutations,the most common type of mutation is delE746-A750;Only one case was Exon 20 mutation,which occurred in the DNA Strand nucleotide sequences at codon 768,was missense mutation;Exon 21 mutations occurred in the DNA Strand nucleotide sequences at codon 848,858 and 861,which were missense mutations,the most common type of mutation was L858R.There existed statistically significant difference between gender,smoking status,histological type and EGFR mutation rate(P<0.05) but not lung cancer staging (P>0.05). Concution The mutations of EGFR in NSCLC were accounted for about 37.8%,in which exon 19,21 were accounted for 94.1%. Both the Bp deletion and the Missense mutation were the main types of gene mutations of EGFR.The mutations mostly occurred in women, non-smokers, and patients with adenocarcinoma, which existed complex mutations in a Proportion of 50%.