肺癌表皮生长因子受体基因测序分析-海南医学.pdfVIP

·论 著· 肺癌表皮生长因子受体基因测序分析 王剑蓉，陈 劼，孙 怡，李 惠，赖仁胜 （南京中医药大学附属医院病理科国家中管局三级分子生物学实验室，江苏 南京 210029 ） 【摘要】 目的 探讨中国人肺癌患者表皮生长因子受体(Epidermal growth factor receptor ，EGFR ）基因突变 状态。方法 用基因测序的方法检测了416 例肺癌肿瘤细胞标本EGFR 基因第18、19、21 外显子，并检测了其中 11 例EGFR 第20 外显子区域。23 例肺癌患者血液标本作为对照。结果 416 例肿瘤标本中共发现118 例 (28.37%)EGFR 基因突变，其中19外显子缺失突变占46.09% ，21 外显子点突变占42.19% ，并发现了4 例EGFR 第 20 外显子区域突变(4/11)。23 例肺癌患者血液标本均未发现突变。肺腺癌的突变率为32.52% ，比鳞癌(12.96%) (P=0.004) 、其他类型癌(13.89%)(P=0.021)增高，差异有统计学意义。EGFR 基因突变在女性患者中(36.72%)所占 比例比男性患者高(22.18%)(P=0.001) 。结论 女性、肺腺癌患者EGFR 突变率高，提示可能在表皮生长因子受 体酪氨酸激酶抑制剂的治疗中获益。 【关键词】 EGFR 基因；突变；肺癌 【中图分类号】 R734.2 【文献标识码】A 【文章编号】 1003—6350（2014 ）10—1405—04 Epidermal growth factor receptor sequencing analysis in lung cancer. WANG Jian-rong, CHEN Jie, SUN Yi, Li Hui, LAI Ren-sheng. Affiliated Hospital of Nanjing University of TCM, The Third Grade Laboratory of Molecular Biology of State Administration of TCM, Nanjing 210029, Jiangsu, CHINA 【Abstract 】 Objective To study the mutation patterns of epidermal growth factor receptor gene in Chinese lung cancers. Methods EGFR exons 18, 19, 21 were performed in 416 tumor specimens of lung cancer by direct DNA sequencing, and exon 20 was detected in 11 patients among them. Blood samples of 23 patients were performed as controls. Results EGFR mutations were identified in 118 of the 416 (28.37%) cases, including in-frame deletion in exon 19 (46.09%) and point mutation in exon 21 (42.19%), and 4 cases of exon 20 mutations were found in 11 pa- tients. No mutation was found in the blood. The mutation rate of lung adenocarcinoma was 32.52%, which was higher than that in squamous cell carcinoma (12.96%) (P=0.004) and other types of lung cancers (13.89%) (P=0.021). The mutations occurred more frequently in