CAJ | 학술논문

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。
목적：탐토비소세포폐암(NSCLC)환자종류조직중 EGFR、K-Ras 화 BRAF 기인각아형돌변정황。방법응용직접측서방법검측550례 NSCLC 석사조직중 EGFR 기인、K-Ras 기인화 BRAF 기인돌변정황。결과 NSCLC종류조직중 EGFR 기인총돌변솔위37.09%(204/550),외현자18、19、20화21적돌변솔분별위1.45%(8/550)、21．09%(116/550)、3.64%(20/550)화11.09%(61/550)；EGFR 기인각외현자지간쌍중돌변공13례(2.36%),EGFR기인각외현자내쌍중돌변공12례(2.18%)。 K-Ras 기인총돌변솔위2.00%(11/550)。 BRAF 기인총돌변솔위0．36%(2/550)。결론 NSCLC 환자중 EGFR 기인존재교고적돌변솔,우기위19화21외현자돌변,기기인돌변아형분류능지도 EGFR-TKI 적종류파향치료,K-Ras 화 BRAF 기인돌변솔수저단불용홀시。
Objective To investigate the mutations of gene subtypes of epidermal growth factor receptor (EG-FR), 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 tis-sues 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.