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结直肠癌组织中KRAS、NRAS、BRAF、PIK3CA基因突变与临床病理特征及MMR蛋白、p53蛋白表达的相关性研究
引用本文:白杨,吴林林,安建多,胡艳萍. 结直肠癌组织中KRAS、NRAS、BRAF、PIK3CA基因突变与临床病理特征及MMR蛋白、p53蛋白表达的相关性研究[J]. 诊断病理学杂志, 2021, 0(3): 183-188,193
作者姓名:白杨  吴林林  安建多  胡艳萍
作者单位:首都医科大学附属北京潞河医院病理科
摘    要:目的 分析结直肠癌组织中KRAS、NRAS、BRAF、PIK3CA基因突变情况,探讨其与临床病理参数及MMR蛋白、p53蛋白表达的关系.方法 回顾性分析140例结直肠癌组织的临床病理特征,应用扩增阻碍突变系统(ARMS)进行实时荧光定量PCR检测140例结直肠癌组织KRAS、NRAS、BRAF、PIK3CA基因突变情况...

关 键 词:结直肠癌  基因突变  MMR  p53

Relationship between mutations of KRAS,NRAS,BRAF and PIK3CA genes and clinicopathological parameters and MMR and p53 protein expression in colorectal cancer
BAI Yang,WU Lin-lin,AN Jian-duo,HU Yan-ping. Relationship between mutations of KRAS,NRAS,BRAF and PIK3CA genes and clinicopathological parameters and MMR and p53 protein expression in colorectal cancer[J]. Chinese Journal of Diagnostic Pathology, 2021, 0(3): 183-188,193
Authors:BAI Yang  WU Lin-lin  AN Jian-duo  HU Yan-ping
Affiliation:(Department of Pathology,Beijing Luhe Hospital,Capital Medical University,Beijing 101149,China)
Abstract:Objective To analyze KRAS,NRAS,BRAF and PIK3 CA gene mutations in colorectal cancer(CRC),and to explore their relationship with clinicopathological parameters,and the expression of MMR protein and p53 protein.Methods A total of 140 cases of CRC were clinicopathologically reviewed and immunohistochemical staining was performed and the gene mutation status was determined by ARMS.Results Among the 140 CRC cases,KRAS was the most common gene mutation that occurred in all cases(64 cases,45.7%),followed by BRAF(13 cases,9.3%),NRAS(6 cases,4.3%)and PIK3 CA(5 cases,3.6%).There were 6 cases carried both KRAS/BRAF mutation,4 cases carried KRAS/PIK3 CA mutation and 1 case carried NRAS/KRAS mutation.The KRAS mutation was associated with more leftsided tumors,and fewer PMS2 deficiency(P<0.05).The PIK3 CA mutation was associated with the younger age,higher well differentiated tumor and P53 wild-type(P<0.05).There was no significant difference in NRAS mutation and BRAF gene mutation with gender,age,diameter,primary site,differentiation,lymph node metastasis,TNM stage,histological type,p53 mutation and MMR protein expression(P<0.05).Conclusion Among colorectal cancer patients,the rate of KRAS gene mutation is most frequently detected.KRAS,NRAS and PIK3 CA gene mutations are correlated with clinicopathological parameters.
Keywords:Colorectal cancer  Genetic mutation  MMR  p53
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