摘要
目的检测非小细胞肺癌患者体细胞表皮生长因子受体(EGFR)基因第19和21外显子突变情况并探讨其临床病理联系。方法用酚-氯仿法抽提66例 NSCLC 患者手术标本的基因组DNA,采用 PCR 技术扩增 EGFR 基因第19和21号外显子,从正反两个方向对扩增片段进行 DNA 测序和分析,并寻找 EGFR 突变与患者临床病理特征之间的联系。结果 66例 NSCLC 患者中有11例(16.7%)存在 EGFR 杂合性体细胞突变,其中7例为第19外显子缺失突变,4例为第21外显子替代突变。女性患者突变率(9/34,26.5%)高于男性患者突变率(2/32,6.3%),腺癌患者突变率(10/43,23.3%)高于鳞癌(0/13)和腺鳞癌患者(1/10),吸烟者与非吸烟者突变率之间差异无统计学意义。伴细支气管肺泡癌成分的腺癌患者 EGFR 突变率(6/11),高于无细支气管肺泡癌成分的腺癌患者(4/32,12.5%)。结论 EGFR 突变率以伴细支气管肺泡癌成分的腺癌和女性较高,更有利于适宜靶向治疗患者的临床筛选。
Objective To investigate mutations of epidermal growth factor receptor （EGFR） exon 19 and 21 in non-small cell lung carcinoma and to explore their clinicopathological correlations. Method DNA was extracted from the excised tumor specimens of 66 non-small cell lung carinoma patients by traditional phenol-chloroform and ethanol precipitation. Exons 19 and 21 were amplified by polymerase chain reaction （ PCR）, followed by direct sequencing in both sense and antisense directions. Results EGFR somatic mutations were present in 11 of 66 patients （16.7%）, including 7 cases of in-frame deletion involving exon 19 and 4 cases of amino acid substitution involving exon 21. Mutations were more frequently observed in women（9/34, 26. 5% ）than in men（2/32, 6. 3% ）, in adenocarcinomas（ 10/43, 23.3% ）than squamous（0/13 ）and adenosquamous carcinomas（1/10）. There was no difference in the mutation rates between smokers and non-smokers. Those with adenocarcinoma with bronchiolo-alveolar carcinoma （BAC） components had higher frequency of EGFR mutation （6/11） than those without non-BAC element （4/32, 12. 5% ）. Conclusions The mutations appear to occur in highly selected subgroups of lung cancer patients： adenocarcinomas with BAC components and patients of the female gender. The results may offer practical approach to the rapid identification of lung cancer patients who likely respond to EGFR inhibitor therapy.
出处
《中华病理学杂志》
CAS
CSCD
北大核心
2007年第7期453-456,共4页
Chinese Journal of Pathology
基金
天津市卫生局科研基金(02KY20)
关键词
癌
非小细胞肺
受体
表皮生长因子
寡核苷酸序列分析
Carcinoma,non-small cell lung
Receptor,epidermal growth factor
Oligonucleotide array sequence analysis
