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 of β-catenin-deficient colorectal cancer. Methods The clinical, pathological and molecular features of 11 colorectal cancers with β-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 of β-catenin protein expression. Conclusion β-catenin deficiency is present in a small number of colorectal cancers and may be associated with exon 3 mutations of CTNNB1 gene.
Colorectal cancer with β-catenin protein expression deficiency: a clinicopathological analysis
Objective To investigate the clinicopathological features and molecular characteristics of β-catenin-deficient colorectal cancer. Methods The clinical, pathological and molecular features of 11 colorectal cancers with β-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 of β-catenin protein expression. Conclusion β-catenin deficiency is present in a small number of colorectal cancers and may be associated with exon 3 mutations of CTNNB1 gene.
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