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。%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 females (36.72%) than in males (22.18%) (P=0.001). The mutation rate of EG-FR in formalin-fixed, paraffin embedded tissue was 28.91%(109/377), which was higher than in malignant pleural ef-fusion 20.59%(7/34). Conclusion Our data indicated that Chinese female lung adenocarcinoma patients could bene-fit from EGFR tyrosine kinase inhibitors.
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