CAJ | 학술논문

目的探讨中国非小细胞肺癌(NSCLC)患者表皮生长因子受体(EGFR)基因突变特点及与临床病理特征的相关性。方法采用优化寡核苷酸探针聚合酶链反应(PCR)法检测309例甲醛固定、石蜡包埋NSCLC组织中EGFR基因第18 ～21号外显子突变情况，分析EGFR突变与临床病理特征的关系。结果受检309例NSCLC样本中，EGFR基因第18、19和21号外显子总突变率为34％(105/309)。男性与女性患者的突变率分别为30.4％ (56/128)和39.2％ (49/125)。年龄≤60岁、无吸烟史、腺癌患者的突变率较高(P＜0.05)，分别为40.5％ (87/215)、40.2％ (51/127)、38.8％ (78/201)。而在鳞癌和大细胞未分化癌中，EGFR基因突变检出率分别为22.2％( 16/72)和3/14。检出的突变类型包括第18号外显子点突变(5.7％，6/105)、第19号外显子缺失突变(39.0％，41/105)和第21号外显子点突变(55.2％，58/105)。其中第18号外显子整体突变率低，但在鳞癌和腺鳞癌所占突变比例较高。结论在中国人群NSCLC中，EGFR基因突变多见于女性、年龄≤60岁、无吸烟史和腺癌患者。优化寡核苷酸探针PCR法敏感、便捷，可用于EGFR基因突变检测。
목적탐토중국비소세포폐암(NSCLC)환자표피생장인자수체(EGFR)기인돌변특점급여림상병리특정적상관성。방법채용우화과핵감산탐침취합매련반응(PCR)법검측309례갑철고정、석사포매NSCLC조직중EGFR기인제18 ～21호외현자돌변정황，분석EGFR돌변여림상병리특정적관계。결과수검309례NSCLC양본중，EGFR기인제18、19화21호외현자총돌변솔위34％(105/309)。남성여녀성환자적돌변솔분별위30.4％ (56/128)화39.2％ (49/125)。년령≤60세、무흡연사、선암환자적돌변솔교고(P＜0.05)，분별위40.5％ (87/215)、40.2％ (51/127)、38.8％ (78/201)。이재린암화대세포미분화암중，EGFR기인돌변검출솔분별위22.2％( 16/72)화3/14。검출적돌변류형포괄제18호외현자점돌변(5.7％，6/105)、제19호외현자결실돌변(39.0％，41/105)화제21호외현자점돌변(55.2％，58/105)。기중제18호외현자정체돌변솔저，단재린암화선린암소점돌변비례교고。결론재중국인군NSCLC중，EGFR기인돌변다견우녀성、년령≤60세、무흡연사화선암환자。우화과핵감산탐침PCR법민감、편첩，가용우EGFR기인돌변검측。
Objective To investigate the epidermal growth factor receptor (EGFR) gene mutation profile and related clinicopathological features in Chinese patients with non-small cell lung carcinoma (NSCLC). Methods Optimized oligonucleotide probe method was applied to detect EGFR mutations involving exons 18-21 using formalin fixed paraffin embedded tissue specimens of 309 NSCLC patients. The relationship between EGFR mutations and clinicopathological features were analyzed. Results The overall EGFR mutation rate was 34％ ( 105/309 ) in this study cohort. Mutation rates in male and female were 30.4％ (56/184) and 39.2％ (49/125 ), respectively. The mutation rate was higher in patients less than 60 years of age, non-smokers and adenocarcinoma subtype than in their counterparts (P ＜ 0.05 ), with the percentage of 40.5％ ( 87/215 ), 40.2％ ( 51/127 ), 38.8％ ( 78/201 ), respectively. The EGFR mutation types included exon 18 G719X mutation (5.7％ ,6/105), exon 19 deletion (39.0％ ,41/105) and exon 21 L858R mutation (55.2％, 58/105 ). In large cell undifferentiated carcinomas and squamous cell carcinomas, EGFR mutation rates were 22.2％ (58/105) and 3/14, respectively. The overall mutation rate of exon 18 was low, but the proportion of its mutation was higher in squamous and adenosquamous carcinomas than in adenocarcinomas. Conclusions There is a higher EGFR mutation rate in female, age of less than 60 years, non-smoker and adenocarcinoma among Chinese patients with NSCLC. Optimized oligonucleotide probe method is a sensitive and convenient method for the detection of EGFR mutations.