摘要/Abstract

摘要： 目的· 分析结直肠癌患者KRAS、NRAS 和BRAF 基因突变状态与临床病理特征的相关性。方法· 收集461 例结直肠癌石蜡标
本，利用突变扩增阻滞系统检测标本KRAS、NRAS 和BRAF 基因的热点突变情况，分析突变率与临床病理特征的相关性。通过查阅
PubMed 文献数据库及美国模式培养物集存库相关细胞株资料，在结直肠癌组织和细胞株水平分析KRAS 和BRAF 共突变情况及对下
游靶基因启动子甲基化的影响。结果· KRAS、NRAS 和BRAF 基因突变率分别为44.0%、6.1% 和5.2%；右半结肠KRAS 的突变率显著
高于左半结肠（P=0.000）；男性患者NRAS 基因突变率显著高于女性患者（P=0.002）。BRAF 基因突变与患者的年龄、肿瘤的分化程
度、肿瘤位置及神经浸润特征密切相关。203 例KRAS 基因突变样本中，无BRAF 突变。结论· KRAS、NRAS 和BRAF 突变率与结直
肠癌临床病理特征存在关联；KRAS 与BRAF 基因突变存在互斥性。
关键词: 结直肠癌, KRAS 基因, NRAS 基因, BRAF 基因, 基因突变, 临床病理特征
Abstract:
Objective · To study the correlation between KRAS, NRAS and BRAF mutations and the clinicopathological features in patients with colorectal cancer (CRC). Methods · The 461 paraffin-embedded CRC tissues were collected. The mutations in hotspot region of KRAS, NRAS and BRAF genes were investigated using amplification refractory mutation system. The relationship between the mutation rates of each gene and the clinicopathological characteristics in CRC patients were analyzed. The KRAS and BRAF mutation profile and the impact on promoter methylation of the downstream genes were further investigated in both CRC tissues and cell lines through literatures and the American Type Culture Collection. Results · KRAS, NRAS and BRAF mutation rates in CRC tissues were 44.0%, 6.1% and 5.2%, respectively. KRAS mutations in the right colon were remarkably higher than the left colon (P=0.000). NRAS mutations were more likely to occur in male patients than female patients (P=0.002). BRAF mutation was closely correlated with age, tumor differentiation, tumor location and nerve invasion, but was exclusive of 203 KRAS mutated samples. Conclusion · KRAS, NRAS and BRAF mutations were significantly correlated with the clinicopathological features of CRC, and the mutation incompatibility was observed between KRAS and BRAF genes.
Key words: colorectal cancer, KRAS, NRAS, BRAF, gene mutation, clinicopathological feature


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