摘要
目的探讨结直肠癌肿瘤组织中基因组突变情况与患者的临床病理特征和预后的关系。方法选取北京大学人民医院120例结直肠癌患者手术标本,采用二代测序技术检测825个癌症相关基因的突变情况,并分析其与患者的临床病理特征和预后的关系。结果﹑120例结直肠癌肿瘤组织中96.7%(116/120)出现基因突变,突变基因共603种,突变率排在前五位的基因为:TP53(63%),APC(55%),K-Ras(34%),PIK3CA(15%),FBXW7(10%)。TP53和PIK3CA基因突变与结直肠癌患者发生远处转移均有关(均P<0.05);APC基因突变率在T4期患者中明显高于非T4期患者,并且与肝转移有关(均P<0.05);K-Ras基因在N1,NO期患者中的突变率显著高于N2期患者(P<0.05);FAT4突变在不同结直肠癌发病部位的差异具有统计学意义(P<0.05);K-Ras基因和FBXW7基因突变患者的总体生存时间均短于无基因突变患者(均P<0.05)。结论结直肠癌中存在多个具有高突变率的关键基因,并且与不良临床病理特征和预后密切相关;相关的基因检测对于结直肠癌诊断.复发转移监测及早期干预有一定指导意义。
objective To explore the relationship between genomic mutations in colorectal cancer and clinicopathological characteristics and prognosis.MethodsOne hundred and twenty surgical specimens from patients with colorectal cancer at Peking University People's Hospital were abtained.Next-generation sequencing technology was used to detect the mutations of 825 cancer-related genes and analyze their relations with the clinicopathological data and prognosis of the patients.Results Genetic mutations were identified in 96.7%(116/120)samples,and 603 mutated genes were detected.The top five genes with mutation rate were:TP53(63%),APC(55%),K-Ras(34%),PIK3CA(15%),FBXW7(10%).TP53 and PIK3CA gene mutations are statistically related to cancer distant metastasis(both P<0.05);APC gene mutations in T4 stage patients are significantly higher than those in non-T4 stage patients and are related to liver metastasis(all P<0.05).The mutation rate of K-Ras gene in Nl and NO patients was significantly higher than that in N2 stage patients(P<0.05);the difference of FAT4 mutation in the position of colorectal cancer was statistically significant(P<0.05);the overall survival time of patients with K-Ras gene and FBXW7 gene mutations was significantly worse than that of those without mutations(both P<0.05).Conclusion Many key genes with high mutation ralcs in colorectal cancer are closely related to poor clinicopathological characteristics and prognosis.Related gene detection has certain guiding significanc efor colorectal cancer diagnosis,recurrence and metastasis monitoring,and early intervention.
作者
赵龙
周静
赵世栋
杨长江
叶颖江
王杉
申占龙
Zhao Long;Zhou Jing;Zhao Shidong;Yang Changjiang;Ye Yingjiang;Wang Shan;Shen Zhanlong(Departmentf Gastroenterological Surgery,Laboratory of Surgical Oncology,Beijing Key Laboratory of Colorectal Cancer Diagnosis and Treatment.Research,Peking University People’s Hospital,Peking 100044,China)
出处
《中华普通外科杂志》
CSCD
北大核心
2020年第12期924-931,共8页
Chinese Journal of General Surgery
基金
国家自然科学基金资助(81972240)。
关键词
结直肠肿瘤
突变
预后
Colorectal neoplasms
Mutation
Prognosis
作者简介
通信作者:申占龙,Email:shenzhanlong@pkuph.edu.cn,电话:010-88324479。
