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目的调查武汉地区非小细胞肺癌(NSCLC)患者表皮生长因子受体(EGFR)基因型分布特点,探究肺癌组织EGFR基因突变与患者吸烟习惯、肿瘤病理学类型、肿瘤分化程度以及淋巴结转移与否的相关性。方法收集185例NSCLC患者石蜡组织切片,采用常规聚合酶链反应(PCR)方法检测EGFR基因18、19、20、21四个外显子,DNA测序分析确定EGFR基因突变类型。结果 185例NSCLC患者中,男性EGFR突变率为7.3%,明显低于女性的17.8%,差异有统计学意义(P<0.05);吸烟患者FGFR基因突变率为7.7%,明显低于不吸烟者的20.0%,差异有统计学意义(P<0.01),其中腺癌EGFR突变率为15.3%(18/118),腺鳞癌突变率为10.0%(3/30),鳞癌突变率为5.4%(2/37);共检测出7种类型突变,分别为Gln787Gln、Leu858Arg、E746-A750del、S752-I759del、A750-I759del、Gly719Ser、Ser768Ile。结论武汉地区NSCLC EGFR基因的突变形式主要为点突变及缺失突变。EGFR基因突变与患者性别有关,与肿瘤病理学类型、肿瘤分化程度和淋巴结转移与否无明显关系。
Objective To investigate the distribution of epidermal growth factor receptor (EGFR) genotypes in patients with non-small cell lung cancer (NSCLC) in Wuhan and investigate the relationship between EGFR gene mutation and smoking habits, tumor pathological type, tumor differentiation and lymph node metastasis Correlation. Methods The paraffin sections of 185 patients with NSCLC were collected. Four exons of EGFR gene 18, 19, 20 and 21 were detected by the conventional polymerase chain reaction (PCR). The mutation types of EGFR gene were determined by DNA sequencing. Results Among 185 NSCLC patients, the mutation rate of EGFR in male was 7.3%, which was significantly lower than that in female (17.8%) (P <0.05). The mutation rate of FGFR gene in smoking patients was 7.7%, which was significantly lower than that in non-smokers (P <0.01). The rate of EGFR mutation was 15.3% (18/118) in adenocarcinoma, 10.0% (3/30) in adenosquamous carcinoma and 5.4 % (2/37). Seven types of mutations were detected, including Gln787Gln, Leu858Arg, E746-A750del, S752-I759del, A750-I759del, Gly719Ser and Ser768Ile. Conclusion The mutations of EGFR gene in NSCLC in Wuhan are mainly point mutation and deletion mutation. The mutation of EGFR gene is related to the gender of the patient and has no significant relationship with tumor pathological type, tumor differentiation degree and lymph node metastasis or not.