文献类型：期刊文献

中文题名：结直肠癌不同转移部位的KRAS、NRAS、BRAF、PIK3CA基因突变特点及其与预后的关系

英文题名：Characterization of Gene Mutations and Its Association with Prognosis of KRAS,NRAS,BRAF,and PIK3CA in Different Colorectal Cancer Metastatic Sites

作者：杨楠[1];何乐[1];李振珺[2];刘凤磊[3];向奇[1];常守凤[2]

第一作者：杨楠

机构：[1]甘肃中医药大学第一临床医学院,兰州730000;[2]甘肃省人民医院病理科,兰州730000;[3]国家卫生健康委员会胃肠肿瘤诊治重点实验室,兰州730000

第一机构：甘肃中医药大学临床医学院

年份：2025

卷号：54

期号：1

起止页码：48

中文期刊名：医学研究杂志

外文期刊名：Journal of Medical Research

基金：国家卫生健康委员会胃肠肿瘤诊治重点实验室2022年度硕博士/博士后基金资助项目(NHCDP2022021);甘肃省人民医院院内科研基金资助项目(21GSSYB-19)。

语种：中文

中文关键词：结直肠癌;转移;KRAS;NRAS;BRAF;PIK3CA

外文关键词：Colorectal cancer;Metastasis;KRAS;NRAS;BRAF;PIK3CA

摘要：目的 探讨结直肠癌(colorectal cancer,CRC)不同转移部位的KRAS、NRAS、BRAF、PIK3CA突变特点及其与预后的相关性。方法 采用突变扩增阻滞系统(amplification refractory mutation system,ARMS)方法检测205例CRC患者的KRAS、NRAS、BRAF、PIK3CA基因突变情况,并分析其与临床特征、转移部位的关系及相关预后。结果 KRAS、NRAS、BRAF、PIK3CA突变率分别为57.1%、4.4%、4.4%、3.9%。KRAS突变在女性、直肠癌、Ⅲ~Ⅳ期患者中显著升高;右半结肠癌中BRAF突变比例显著升高(P<0.05)。肺转移在KRAS突变时更常见,NRAS突变率在肝转移中更高,腹膜转移的比例在BRAF突变时更高;KRAS和NRAS突变分别是CRC肺转移和肝转移的独立危险因素(P<0.01)。RAF突变型在CRC肝转移、腹膜转移患者中生存时间(overall survival,OS)较短,KRAS突变型在CRC肺转移患者中预后更差;KRAS和BRAF突变分别是CRC肺转移和肝转移患者预后不良的独立预测因子(P<0.01)。结论 KRAS、NRAS、BRAF突变紧密关联CRC远处转移及预后,临床应常规检测以上突变,为治疗决策提供关键指导。
Objective To investigate the characteristics of KRAS,NRAS,BRAF,and PIK3CA mutations in different colorectal cancer(CRC) metastatic sites and their correlation with prognosis.Methods The mutations of KRAS,NRAS,BRAF,and PIK3CA were detected in 205 cases by using a mutation amplification refractory mutation system(ARMS),and their correlation with clinical features,metastatic sites,and related prognosis was analyzed.Results The mutation rates of KRAS,NRAS,BRAF,and PIK3CA were 57.1%,4.4%,4.4% and 3.9%,respectively.Mutations of KRAS are increased in women,patients with colorectal cancer,and patients with stage Ⅲ-Ⅳ colorectal cancer.The BRAF mutation rate in right-sided colon cancer was increased(P<0.05).KRAS mutations were commonly seen during pulmonary metastasis,while NRAS mutation rates were higher during liver metastasis,and the proportion of peritoneal metastases was higher when BRAF mutated.KRAS and NRAS mutations were identified as elevated risks for lung and liver metastasis in colorectal cancer(CRC)(P<0.01).BRAF mutation types lead to shorter overall survival(OS) in CRC cases with liver and peritoneal metastasis,whereas KRAS mutations indicate poorer prognosis in lung metastasis.Both KRAS and BRAF mutations are independent prognostic indicators of unfavorable outcomes in CRC with lung and liver metastasis,respectively(P<0.01).Conclusion KRAS,NRAS and BRAF mutations are closely associated with distant metastasis and prognosis in CRC.Clinical practice should routinely assess these mutations to provide critical guidance for treatment decisions.