结直肠癌患者BRAF，KRAS，NRAS和PIK3CA基因突变与其病理特征的关系
| 作者: |
1,1代云,
2李青
1 溧阳市人民医院病理科，江苏 溧阳 213300 2 常州市第一人民医院病理科，江苏 常州 213000 |
| 通讯: |
李青
Email: liqblk@163.com |
| DOI: | 10.3978/j.issn.2095-6959.2017.05.001 |
| 基金: | 常州市卫生局重大项目, ZD2016018 |
摘要
目的：探讨265例结直肠癌患者BRAF，KRAS，NRAS和PIK3CA基因突变及其病理特征关系。方法：选取2014年12月至2016年12月的265例结直肠癌患者肿瘤组织标本进行回顾性分析，采用PCR扩增–直接测序法检测BRAF基因(15外显子600密码子)，KRAS基因(12，13，61密码子突变)，NRAS(2号与3号外显子的12密码子、13密码子与61密码子常见的12个突变位点)及PIK3CA(第9，20外显子)基因的突变状态，分析其与结直肠癌临床病理特征的关系。结果：265例患者中存在BRAF基因突变率为6.8%(18/265)，KRAS基因突变率为32.1%(85/265)，NRAS基因突变率为5.7%(15/265)，PIK3CA基因突变率为11.3%(30/265)。NRAS基因和KRAS基因突变与年龄有关(P<0.05)，与性别、原发部位、组织学类型、分化程度、TNM分期、区域淋巴结转移、远处转移、术后复发转移均无关(P>0.05)；BRAF，PIK3CA基因在原发部位为右半结肠患者中的突变率明显升高(P<0.05)，但与年龄、性别、组织学类型、分化程度、TNM分期、区域淋巴结转移、远处转移、术后复发转移均无关(P>0.05)。结论：NRAS，PIK3CA基因在中国结直肠癌患者中的突变率较低。KRAS，NRAS基因突变与年龄相关，BRAF，PIK3CA基因与肿瘤原发部位相关，联合检测这些基因的突变情况可以判断疾病的发生发展。
关键词：
结直肠癌
BRAF
KRAS
NRAS
PIK3CA
基因突变
Relationship between BRAF, KRAS, NRAS, PIK3CA gene mutation and pathological characteristics in patients with colorectal cancer
CorrespondingAuthor: LI Qing Email: liqblk@163.com
DOI: 10.3978/j.issn.2095-6959.2017.05.001
Abstract
Objective: To study the relationship between BRAF, KRAS, NRAS and PIK3CA gene mutations and pathological characteristics in 265 patients with colorectal cancer. Methods: From December 2014 to December 2016, tumor tissues of 265 patients with colorectal carcinoma in our hospital were retrospectively analyzed, BRAF gene (exon 15 codon 600), KRAS (gene mutations of 12,13,61 codon), NRAS (2 and 3 in exon 12 codon 13, codon 61 codons and 12 common mutations) and PIK3CA (exon 9,20) gene mutation status were detected by PCR-direct sequencing, and its relationship with clinical pathological characteristics of colorectal cancer was analyzed. Results: In 265 patients, the BRAF gene mutation rate was 6.8% (100/265), KRAS gene mutation rate was 32.1% (85/265), NRAS gene mutation rate was 5.7% (15/265), PIK3CA gene mutation rate was 11.3% (30/265). NRAS gene and KRAS gene mutation were associated with age (P<0.05), and gender, the primary site, histological type, differentiation degree, TNM staging, lymph node metastasis, distant metastasis, recurrence and metastasis were independent (P>0.05); BRAF, PIK3CA gene in the primary site for right colon in patients with mutation rate increased significantly (P<0.05), while age, gender, histological type, differentiation degree, TNM staging, lymph node metastasis, distant metastasis, recurrence and metastasis were independent (P>0.05). Conclusion: NRAS or PIK3CA has a low level in Chinese rectal cancer patients. KRAS and NRAS gene mutations were correlated with age, whereas BRAF and PIK3CA genes are correlated with the primary tumor site. A combined detection of these genes can define the pathogenesis and development of the disease.