结直肠癌患者肿瘤组织中KRAS、NRAS和BRAF基因突变的分子病理检测分析
| 作者: |
1吴永芳,
1许春伟,
1宋业颖,
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.2095-6959.2015.07.035 |
摘要
目的：探讨结直肠癌患者肿瘤组织中KRAS、NRAS和BRAF基因各亚型突变状况。方法：应用Taqman-ARMS方法检测101例结直肠癌患者石蜡组织中KRAS、NRAS、BRAF基因突变情况。结果：结直肠癌患者肿瘤组织中KRAS基因总突变率为42.57%，其中30例(29.70%)检测到外显子2第12密码子突变；其中13例(12.87%)检测到KRAS基因外显子2第13密码子突变，为G13D点突变，未检测到G13C点突变；NRAS基因总突变率为3.96%，其中外显子2第12密码子突变1例(0.99%)，外显子2第13密码子突变1例(0.99%)，外显子3第61密码子突变2例(1.98%)；BRAF基因总突变率为3.96%。结论：结直肠癌患者组织中KRAS基因突变率较高，NRAS和BRAF基因突变率虽低但不容忽视。KRAS、NRAS和BRAF基因检测人群的筛选对结直肠癌患者治疗方案的选择意义重大，能够更有效的指导精准医学个体化治疗。
关键词：
Taqman-ARMS方法
结直肠癌
KRAS基因
NRAS基因
BRAF基因
突变率
The molecular pathology examination analysis of KRAS, NRAS and BRAF gene mutation in colorectal cancer
CorrespondingAuthor: XU Chunwei Email: xuchunweibbb@163.com
DOI: 10.3978/j.issn.2095-6959.2015.07.035
Abstract
Objective: To investigate the mutations of gene subtypes of KRAS, NRAS and BRAF gene in colorectal cancer. Methods: Taqman-ARMS was used to test the tissues in 101 cases of colorectal cancer with paraffin tissue KRAS, NRAS and BRAF gene mutation. Results: The total mutation rate of KRAS gene was 42.57% (43/101) in colorectal cancer. KRAS gene mutation rate of codon 12 in exons 2 was 29.70%; KRAS gene mutation rate of codon 13 in exons 2 was 12.87% (13/101). NRAS gene mutation rate of codon 12 in exons 2 was 3.96%; the total mutation rate of NRAS gene was 3.96% in colorectal cancer. NRAS gene mutation rate of codon 12 in exons 2 was 0.99%; NRAS gene mutation rate of codon 13 in exons 2 was 0.99%; and NRAS gene mutation rate of codon 61 in exons 3 was 1.98%. The total mutation rate in BRAF gene was 3.96%. Conclusion: The mutation rate of KRAS gene is high in colorectal cancer, but NRAS or BRAF gene mutation is low in colorectal cancer. The people of KRAS, NRAS and BRAF gene detects for the choice of treatment in patients with colorectal cancer is of great significance, can effectively guide precision medical individualized treatment.