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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 detect the mutation of exon 19 and 21 of somatic cell epidermal growth factor receptor (EGFR) gene in patients with non-small cell lung cancer (NSCLC) and to investigate its clinicopathological relationship. Methods The genomic DNA of 66 NSCLC patients was extracted by phenol - chloroform method. The exons 19 and 21 of EGFR gene were amplified by PCR. The amplified DNA was sequenced and analyzed in both forward and reverse directions. Look for the link between EGFR mutation and clinicopathological features of patients. Results Of the 66 patients with NSCLC, 11 (16.7%) patients had EGFR heterozygous somatic mutations, of which 7 were exon 19 deletion mutations and 4 were exon 21 alternative mutations. The mutation rate of female patients (9 / 34,26.5%) was higher than that of male patients (2 / 32,6.3%). The mutation rate of adenocarcinoma patients (10 / 43,23.3%) was higher than that of squamous cell carcinomas Adenosquamous carcinoma patients (1/10), smoker and non-smoker mutation rate was no significant difference between. The EGFR mutation rate (6/11) in adenocarcinoma with bronchioloalveolar carcinoma was higher than that in adenocarcinoma without bronchioloalveolar carcinoma (4 / 32,12.5%). Conclusion The mutation rate of EGFR is high in adenocarcinoma and female with bronchial alveolar carcinoma. It is more favorable for the clinical screening of patients with appropriate targeted therapy.