实用医学杂志 ›› 2022, Vol. 38 ›› Issue (21): 2670-2675.doi: 10.3969/j.issn.1006⁃5725.2022.21.007

• 临床研究 • 上一篇    下一篇

二代测序检测结直肠癌KRAS 和BRAF 基因突变与预后的关系

司马学琴1 苏延停1 曾智2   

  1. 1 湖北科技学院基础医学院（湖北咸宁 437100）；2 咸宁市中心医院病理科（湖北咸宁 437100）

  • 出版日期:2022-11-10 发布日期:2022-11-10
  • 基金资助:

    国家自然科学基金（编号：32000906）

The relationship between KRAS and BRAF gene mutations and prognosis of colorectal cancer detected by next generation sequencing 

SIMA Xueqin*，SU Yanting，ZENG Zhi   

  1. Basic Medical College，Hubei University of Science and Technology，Xianning 437100，China

  • Online:2022-11-10 Published:2022-11-10

摘要：

目的 探讨结直肠癌患者中 KRAS 和 BRAF 基因突变与患者预后的关系。方法 采用二代 测序（NGS）技术检测 2017 年 1 月至 2020 年 1 月在咸宁市中心医院病理科存档的 60 例结直肠癌患者的组 织标本中的KRAS 和BRAF 基因突变情况，分析两者基因突变与患者临床病理特征的相关性及对预后的影 响，并探讨患者 OS 的影响因素。结果 60 例结直肠癌患者的 KRAS 基因突变率为 41.7%（25/60），以第 2 外显子突变为主，BRAF 基因突变率为 8.3%（5/60），全部为 15 外显子突变，未见两者共突变。KRAS 基因 突变与患者病理分型及 N 分期明显相关，BRAF 基因突变主要与病理分型及远处转移有关。KRAS 基因突 变患者疾病控制率明显低于野生型患者。患者的病理分型、T分期、N分期、BRAF突变是影响患者OS的独 立影响因素。BRAF 突变患者的 OS 及 PFS 均明显低于野生型患者，KRAS 突变对患者的 OS 及 PFS 无影响。 结论 在结直肠癌中 KRAS 突变率较高，与患者的分化程度及淋巴结转移关系密切；BARF 突变率较低，与 分化程度、远处转移及不良预后相关。

关键词: 二代测序,  , 结直肠癌,  , KRAS,  , BRAF,  , 突变,  , 预后

Abstract:

Objective To investigate the relationship between KRAS and BRAF gene mutations and prog⁃ nosis in colorectal cancer patients. Methods From January 2017 to January 2020，tissue samples from 60 patients with colorectal cancer submitted at the pathology department of our hospital were examined for KRAS and BRAF gene mutations using next⁃generation sequencing（NGS）technology. Analysis was done on the relationship between patient clinic pathological features and KRAS and BRAF gene mutations，as well as how these factors affected prog⁃ nosis. The COX regression model was employed to examine the variables affecting OS in CRC patients. Results The KRAS gene mutation rate of 60 colorectal cancer patients was 41.7%（25/60），t with the second exon mutation being the most common，and the BRAF gene mutation rate was 8.3%（5/60），all of which were exon 15 mutations with no co ⁃ mutation found. KRAS gene mutation is significantly related to pathological type and N stage，while BRAF gene mutation is mainly related to pathological type and distant metastasis. The disease control rate of KRAS mutation patients was significantly lower than that of wild ⁃type patients. Pathological type，T stage，N stage，and BRAF mutation are all independent factors that influence OS. BRAF mutation patients had significantly lower OS and PFS than wild⁃type patients，while KRAS mutation had no effect on OS and PFS. Conclusion KRAS mu⁃ tation rates were high in colorectal cancer，and they were closely related to patients′ degree of differentiation and lymph node metastasis. BARF mutation rates was low，which was related to the degree of differentiation，distant me⁃ tastasis，and poor prognosis.

Key words:

next generation sequencing, colorectal cancer, KRAS, BRAF, mutation, prognosis

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