| 苏金秋,李 状,王健理,等.CTNNB1基因突变在低拷贝型子宫内膜癌预后中的临床意义[J].肿瘤学杂志,2025,31(11):938-944. |
| CTNNB1基因突变在低拷贝型子宫内膜癌预后中的临床意义 |
| Clinical Significance of CTNNB1 Gene Mutation in Prognostic of Copy Number-Low Endometrial Cancer |
| 投稿时间：2025-03-11 |
| DOI：10.11735/j.issn.1671-170X.2025.11.B003 |
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| 中文关键词: 子宫内膜癌 低拷贝型 CTNNB1 突变 预后 |
| 英文关键词:endometrial carcinoma copy number-low CTNNB1 mutation prognosis |
| 基金项目:国家自然科学基金（82160443）；广西自然科学基金（2020GXNSFAA159023）；2021年区域性高发肿瘤早期防治研究重点实验室自主研究课题（GKE-ZZ 202147）；广西第十八批“新世纪十百千人才工程”第二层次人选专项基金（2015226）；广西医学高层次骨干人才培养“139”计划专项资金资助（G201903032）。 |
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| 中文摘要: |
| 摘 要：［目的］ 探讨CTNNB1基因突变在低拷贝型（copy number-low，CN-L）子宫内膜癌预后评估中的临床意义。［方法］ 利用TCGA和PanCancer Atlas数据库，分析CTNNB1基因突变在CN-L子宫内膜癌组织中的表达差异及其与临床病理特征和预后的相关性。同时，采用二代测序技术和免疫组化方法检测27例CN-L子宫内膜癌患者组织标本中的CTNNB1基因表达和突变状况，分析影响患者预后及CTNNB1突变的因素。［结果］ TCGA和PanCancer Atlas数据库分析显示，113例CN-L子宫内膜癌中CTNNB1突变型mRNA表达量增加，但蛋白表达量减少。CTNNB1突变型患者的中位无进展生存期和中位总生存期缩短，分别为24.1个月和19.5个月。Cox多因素分析提示病理分级与不良预后显著相关（P<0.05）。对27例CN-L子宫内膜癌患者的检测显示，CTNNB1基因突变率高达59.3%，主要涉及外显子9和15。CTNNB1突变型患者的中位无进展生存期和中位总生存期缩短，分别为13.9个月和1.2个月。Cox多因素分析提示，临床分期与CN-L子宫内膜癌患者的死亡风险显著相关（HR=14.57，95%CI：1.49~142.94）。［结论］ CTNNB1 基因突变可能与CN-L子宫内膜癌患者预后相关。 |
| 英文摘要: |
| Abstract： ［Objecttive］ To investigate the association of CTNNB1 gene mutation with clinicopathological features and prognosis of patients with copy number-low (CN-L) endometrial carcinoma. ［Methods］ The Cancer Genome Atlas (TCGA) and PanCancer Atlas databases were used to analyze the differential expression of CTNNB1 gene mutation in CN-L endometrial carcinoma tissues. The mutation status of CTNNB1 gene was detected by next generation sequencing and immunohistochemistry in 27 tissue specimens from patients with CN-L endometrial carcinoma， and its correlation with clinicopathological features and prognosis was analyzed. ［Results］ TCGA and PanCancer Atlas database analysis showed that the mRNA expression of mutant CTNNB1 in 113 patients with CN-L endometrial carcinoma was upregulated， but the protein level was decreased. The median progression-free survival (PFS) and median overall survival (OS) of patients with CTNNB1 mutation were shortened with 24.1 months and 19.5 months， respectively. And the poor prognosis was significantly correlated with pathological grade(P<0.05). The mutation rate of CTNNB1 gene in 27 CN-L endometrial carcinoma patients was as high as 59.3%， mainly involving exons 9 and 15. The median PFS and median OS of patients with CTNNB1 mutation were shortened with 13.9 months and 1.2 months， respectively. Multivariate Cox analysis showed that clinical stage was positively correlated with the mortality risk of CN-L endometrial carcinoma patients (HR=14.57， 95%CI：1.49~142.94). ［Conclusion］ CTNNB1 mutation may be related to prognosis of CN-L endometrial carcinoma patients. |
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