非小细胞肺癌患者肿瘤组织中EGFR、K-Ras和BRAF基因突变的分子病理检测分析

Molecular Pathological Examination Analysis of EGFR,K-Ras and BRAF Gene Mutation in Tissues of Tumor of Patients with Non-small Cell Lung Cancer

目的探讨非小细胞肺癌(NSCLC)患者肿瘤组织中EGFR、K-Ras和BRAF基因各亚型突变情况。方法应用直接测序方法检测550例NSCLC石蜡组织中EGFR基因、K-Ras基因和BRAF基因突变情况。结果 NSCLC肿瘤组织中EGFR基因总突变率为37.09%(204/550),外显子18、19、20和21的突变率分别为1.45%(8/550)、21.09%(116/550)、3.64%(20/550)和11.09%(61/550);EGFR基因各外显子之间双重突变共13例(2.36%),EGFR基因各外显子内双重突变共12例(2.18%)。K-Ras基因总突变率为2.00%(11/550)。BRAF基因总突变率为0.36%(2/550)。结论 NSCLC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,K-Ras和BRAF基因突变率虽低但不容忽视。

Objective To investigate the mutations of gene subtypes of epidermal growth factor receptor（ EGFR）,K-Ras and proto-oncogene proteins b-raf（ BRAF） in tissues of tumor of patients with non-small cell lung cancer（ NSCLC）. Methods Direct sequencing was used to detect the EGFR,K-Ras and BRAF gene mutations in paraffin tissues of 550 NSCLC patients. Results The total mutation rate in EGFR gene was 37. 09%（ 204 /550）,and mutation rates in 18,19,20 and 21 exons were 1. 45%（ 8 /550）,21. 09%（ 116 /550）,3. 64%（ 20 /550） and 11. 09%（ 61 /550） in NSCLC tissues; the total double mutation rate among each exon of EGFR gene was 2. 36%（ 13 /550）,and the total double mutation in each exon was 2. 18%（ 12 /550）. the total mutation rate in K-ras gene was 2. 00%（ 11 /550）,and the total mutation rate in BRAF gene was 0. 36%（ 2 /550）. Conclusion The mutation rate of EGFR gene is high in NSCLC patients especially in 19 and 21 exons,and the subtype mutations can guide the EGFR-TKI target for therapy.Though K-Ras and BRAF gene mutation rates are low in NSCLC patients,they should not be ignored.