非小细胞肺癌患者肿瘤组织中驱动基因的分子病理检测分析
| 作者: |
1宋业颖,
1许春伟,
1吴永芳,
1班怡,
1张博,
1邵云,
1李晓兵
1 军事医学科学院附属医院病理科，北京 100071 |
| 通讯: |
许春伟
Email: xuchunweibbb@163.com 张博 Email: zenwo@qq.com |
| DOI: | 10.3978/j.issn.2095-6959.2015.06.020 |
| 基金: | 军事医学科学院附属医院创新科研基金, ZH-2014-10 |
摘要
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。
关键词：
Taqman-ARMS方法
非小细胞肺癌
驱动基因
突变率
The molecular pathology examination analysis of drive gene change in non-small cell lung cancer
CorrespondingAuthor: XU Chunwei Email: xuchunweibbb@163.com
DOI: 10.3978/j.issn.2095-6959.2015.06.020
Abstract
Objective: To investigate the mutations of each subtype of EGFR gene, KRAS gene ALK gene, ROS1 gene, c-Met gene and Her-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 tissue EGFR, KRAS, ALK, ROS1, c-Met and Her-2 gene change. Results: The total mutation rate in exons 18 to 21 of EGFR gene was36.26% (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. The total double mutation rate among every exon of EGFR gene was 4.49%(12/273); the total mutation rate in KRAS gene was 4.76%(13/273); the total positive rate in ALK fusion gene was 9.16%(25/273); the total positive rate in ROS1 fusion gene was 2.20%(6/273); the total amplification rate in c-Met gene was 3.66%(10/273) and the total mutation rate in Her-2 gene was 0.73%(2/273). Drive gene double mutations coexist was 11 cases (4.03%), including 2 cases of EGFR gene mutation and ALK fusion gene positive coexist in (0.73%), 3 cases of EGFR gene and KRAS gene mutation coexist (1.10%), 6 cases of EGFR gene mutation and c-Met gene amplification coexistence type (2.20%). Conclusion: The mutation rate of EGFR gene is high in NSCLC patients especially in 19 and 21 exons and ALK fusion gene, and the subtype mutations can guide the precision medical for individualized target therapy. Though KRAS, ROS1, c-Met and Her-2 gene change are low in NSCLC patients, they should not be ignored.