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目的:探讨非小细胞肺癌患者肿瘤组织中EGFR和KRAS基因各亚型突变情况。方法:应用直接测序方法检测非小细胞肺癌石蜡组织中1 273例EGFR基因和1 062例KRAS基因突变情况。结果:非小细胞肺癌肿瘤组织中EGFR基因总突变率为36.68%(467/1 273),外显子18、19、20和21的突变率分别为1.02%(13/1 273)、18.93%(241/1 273)、2.59%(33/1 273)和15.95%(203/1 273);EGFR基因各外显子之间双重突变共17例(1.34%),其中18外显子与20外显子双重突变3例(0.24%),19外显子与20外显子双重突变7例(0.55%),19外显子与21外显子双重突变4例(0.31%)和20外显子与21外显子双重突变3例(0.24%);EGFR基因各外显子内双重突变共2例(2.18%),均为21外显子双重突变。KRAS基因总突变率为3.01%(32/1 062),外显子2的密码子5、12、13和25的突变率分别为0.09%(1/1 062)、2.64%(28/1 062)、0.18%(2/1 062)和0.09%(1/1 062),外显子3密码子61的突变率为0.09%(1/1 062)。结论:非小细胞肺癌患者中EGFR基因存在较高的突变率,尤其为19和21外显子突变,其基因突变亚型分类能指导EGFR-TKI的肿瘤靶向治疗,KRAS基因突变率虽低但不容忽视,其基因突变预示着EGFR-TKI原发耐药。
Objective: To investigate the mutations of EGFR and KRAS gene in non-small cell lung cancer patients. Methods: A total of 1 273 cases of EGFR gene and 1062 cases of KRAS gene mutation in non-small cell lung cancer paraffin tissues were detected by direct sequencing. Results: The total mutation rate of EGFR gene in non-small cell lung cancer was 36.68% (467/1 273). The mutation rates of exon 18, 19, 20 and 21 were 1.02% (13/1 273), 18.93% (241/1 273), 2.59% (33/1 273) and 15.95% (203/1 273) respectively. There were 17 cases (1.34%) with double mutations in exon of EGFR gene, of which 18 exons and 20 There were 3 cases (0.24%) of exon double mutation, 7 cases (0.55%) of 19 exon and 20 exon double mutation, 4 cases (0.31%) of 19 exon and 21 exon double mutation and 20 cases There were 3 cases (0.24%) of double mutations in exon and 21 exons; 2 cases (2.18%) were double mutations in exon of EGFR gene, both were exon 21 double mutations. The total mutation rate of KRAS gene was 3.01% (32/1 062). The mutation rates of codons 5, 12, 13 and 25 of exon 2 were 0.09% (1/1 062), 2.64% (28/1 062) ), 0.18% (2/1 062) and 0.09% (1/1 062) respectively. The mutation rate of exon 3 codon 61 was 0.09% (1/1 062). Conclusion: There is a high mutation rate of EGFR gene in patients with NSCLC, especially 19 and 21 exon mutations. The classification of gene mutation subtypes can guide the tumor targeting therapy of EGFR-TKI. Although the mutation rate of KRAS gene is low However, it should not be overlooked that its gene mutation indicates the primary resistance of EGFR-TKI.