CAJ | 학술논문

目的：探讨非小细胞肺癌患者肿瘤组织中驱动基因EGFR、KRAS、ALK、ROS1、c-Met和Her-2基因各亚型改变情况。方法：应用Taqman-ARMS方法检测273例非小细胞肺癌石蜡组织中EGFR基因、KRAS基因、ALK基因、ROS1基因、c-Met基因和Her-2基因改变情况。结果：非小细胞肺癌肿瘤组织中EGFR基因总突变率为36.26%(99/273)，外显子18、19、20和21的突变率分别为0(0/273)、16.12%(44/273)、4.49%(15/273)和17.95%(49/273)；EGFR基因各外显子之间双重突变共12例(4.40%)；KRAS基因总突变率为4.76%(13/273)；ALK融合基因总阳性率为9.16%(25/273)；ROS1融合基因总阳性率为2.20%(6/273)；c-Met基因总扩增率为3.66%(10/273)；Her-2基因总突变率为0.73%(2/273)；各驱动基因双突变共存型11例(4.03%)，其中EGFR基因突变与ALK融合基因阳性共存型2例(0.73%)，EGFR基因突变与KRAS基因突变共存型3例(1.10%)，EGFR基因突变与c-Met基因扩增共存型6例(2.20%)。结论：非小细胞肺癌患者中EGFR基因19和21外显子突变和ALK融合基因均存在较高的突变率，基因突变亚型分类能指导精准医学的个体化靶向治疗，KRAS、ROS1、c-Met、Her-2基因改变以及驱动基因双突变共存型基因突变率虽低但不容忽视。
목적：탐토비소세포폐암환자종류조직중구동기인EGFR、KRAS、ALK、ROS1、c-Met화Her-2기인각아형개변정황。방법：응용Taqman-ARMS방법검측273례비소세포폐암석사조직중EGFR기인、KRAS기인、ALK기인、ROS1기인、c-Met기인화Her-2기인개변정황。결과：비소세포폐암종류조직중EGFR기인총돌변솔위36.26%(99/273)，외현자18、19、20화21적돌변솔분별위0(0/273)、16.12%(44/273)、4.49%(15/273)화17.95%(49/273)；EGFR기인각외현자지간쌍중돌변공12례(4.40%)；KRAS기인총돌변솔위4.76%(13/273)；ALK융합기인총양성솔위9.16%(25/273)；ROS1융합기인총양성솔위2.20%(6/273)；c-Met기인총확증솔위3.66%(10/273)；Her-2기인총돌변솔위0.73%(2/273)；각구동기인쌍돌변공존형11례(4.03%)，기중EGFR기인돌변여ALK융합기인양성공존형2례(0.73%)，EGFR기인돌변여KRAS기인돌변공존형3례(1.10%)，EGFR기인돌변여c-Met기인확증공존형6례(2.20%)。결론：비소세포폐암환자중EGFR기인19화21외현자돌변화ALK융합기인균존재교고적돌변솔，기인돌변아형분류능지도정준의학적개체화파향치료，KRAS、ROS1、c-Met、Her-2기인개변이급구동기인쌍돌변공존형기인돌변솔수저단불용홀시。
Objective: To investigate the mutations of each subtype ofEGFR gene,KRAS geneALK gene,ROS1 gene, c-Met gene andHer-2 gene in non-small cell lung cancer.Methods: Taqman-ARMS was used to test the tissues in 273 patients of non-small cell lung cancer with paraffin tissueEGFR,KRAS,ALK,ROS1,c-Met andHer-2 gene change.Results: hTe total mutation rate in exons 18 to 21 ofEGFR gene was 36.26% (99/273) in NSCLC. EGFR gene mutation rate were found in exons 18(0, 0/550), 19 (16.12%, 44/273), 20 (4.49%, 15/273), and exon 21 (17.95%, 49/273) in the NSCLC. hTe total double mutation rate among every exon ofEGFR gene was4.49%(12/273); the total mutation rate inKRAS gene was 4.76%(13/273); the total positive rate inALK fusion gene was 9.16%(25/273); the total positive rate inROS1fusion gene was 2.20%(6/273); the total ampliifcation rate inc-Met gene was 3.66%(10/273) and the total mutation rate inHer-2 gene was 0.73%(2/273). Drive gene double mutations coexist was 11 cases (4.03%), including 2 cases ofEGFR gene mutation andALK fusion gene positive coexist in (0.73%), 3 cases ofEGFR gene andKRAS gene mutation coexist (1.10%), 6 cases ofEGFR gene mutation andc-Met gene ampliifcation coexistence type (2.20%).Conclusion: hTe mutation rate ofEGFR gene is high in NSCLC patients especially in 19 and 21 exons andALK fusion gene, and the subtype mutations can guide the precision medical for individualized target therapy. hToughKRAS,ROS1,c-Met andHer-2 gene change are low in NSCLC patients, they should not be ignored.