β连环素表达缺失结直肠癌的临床病理学分析  

Colorectal cancer withβ-catenin protein expression deficiency:a clinicopathological analysis

作　　者：张杨杨 辛萱 毕利泉 石福云 曹瑞雪 王艳梅 刘晓红 Zhang Yangyang;Xin Xuan;Bi Liquan;Shi Fuyun;Cao Ruixue;Wang Yanmei;Liu Xiaohong(Department of Pathology,960th Hospital of People′s Liberation Army of China,Jinan 250031,China;Department of Pathology,Hekou District People′s Hospital,Dongying 257299,China)

机构地区：[1]解放军第九六〇医院病理科,济南250031 [2]山东省东营市河口区人民医院病理科,东营257299

出　　处：《中华病理学杂志》2024年第3期288-292,共5页Chinese Journal of Pathology

基　　金：山东省医药卫生科技项目(202302061686)。

摘　　要：目的探讨β连环素缺失结直肠癌的临床病理学表现及分子特征。方法收集2012年1月至2022年11月解放军第九六〇医院诊断为结直肠癌且β连环素丢失表达的病例标本11例,分析其临床、病理和分子改变。结果11例病例中,男性3例,女性8例;年龄43~74岁,中位年龄59岁;左半结肠6例,右半结肠5例;有淋巴结转移1例,无淋巴结转移10例;高~中分化腺癌10例,黏液腺癌1例;TNM分期T4期8例,T1期2例,Tis期1例。肿瘤细胞免疫组织化学染色均不表达β连环素。Sanger测序显示CTNNB1基因第3号外显子存在片段缺失突变,导致蛋白缺失表达。结论β连环素缺失结直肠癌是一类少见的亚群,可能与CTNNB1基因第3号外显子突变相关。Objective To investigate the clinicopathological features and molecular characteristics ofβ-catenin-deficient colorectal cancer.Methods The clinical,pathological and molecular features of 11 colorectal cancers withβ-catenin protein loss diagnosed at the 960th Hospital of People′s Liberation Army of China,from January 2012 to November 2022 were analyzed.Results Among the 11 patients,3 were males and 8 were females.Their age ranged from 43 to 74 years,with the median age of 59 years.Six were in the left colon and 5 were in the right colon.One of the 11 cases had lymph node metastasis,10 cases were well and moderately differentiated adenocarcinoma,and 1 was mucinous adenocarcinoma.Eight cases were of TNM stage T4,2 of T1 stage and 1 of Tis stage.β-catenin protein was not detected using immunohistochemistry.Sanger sequencing revealed the presence of fragment-deletion mutation in exon 3 of CTNNB1 gene,resulting in loss ofβ-catenin protein expression.Conclusionβ-catenin deficiency is present in a small number of colorectal cancers and may be associated with exon 3 mutations of CTNNB1 gene.

关 键 词：结直肠肿瘤 Β连环素 DNA突变分析 免疫组织化学 

分 类 号：R735.34[医药卫生—肿瘤]