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启动子-124C>T突变提示卵巢透明细胞癌预后良好:一项中国单中心研究

The -124C>T Mutation of the Promoter Indicates Favorable Prognosis in Ovarian Clear Cell Carcinoma: A Single Institutional Study in China.

作者信息

Zhou Xiaonan, Liu Yifei, Hu Jue, Zhang Jing, Ren Min, Ji Gang, Cai Xu, Bi Rui

机构信息

Department of Pathology, Fudan University Shanghai Cancer Center, Department of Oncology, Shanghai Medical College, Fudan University, 270 Dong'an Road, Shanghai 200032, China.

出版信息

Curr Oncol. 2025 Jul 27;32(8):422. doi: 10.3390/curroncol32080422.

Abstract

Ovarian clear cell carcinoma (OCCC) is characterized by chemoresistance and poor prognosis in advanced or recurrent cases. This study aimed to find specific prognostic markers for OCCC. We analyzed 169 OCCC patients for clinicopathological features. TERT promoter and PIK3CA mutations were assessed by Sanger sequencing, and immunohistochemistry for ARID1A, HDAC6, Cyclin E1, and p53 was performed on tissue microarrays. Survival analysis was conducted using Kaplan-Meier and Cox regression models. The -124C>T TERT promoter mutation was associated with longer OS and PFS and was an independent predictor of favorable OS. This mutation correlated with lower CA125 levels and higher SNP frequency. p53 mutations indicated advanced disease, bilateral tumors, reduced Cyclin E1, and poor prognosis. Low HDAC6 expression was linked to worse PFS. Mutual exclusivity was observed between PIK3CA exon 20 mutations and SNPs. The -124C>T TERT promoter mutation may serve as a favorable prognostic marker in OCCC, while p53 mutations and reduced HDAC6 expression are associated with poor outcomes.

摘要

卵巢透明细胞癌(OCCC)在晚期或复发病例中具有化疗耐药性且预后较差。本研究旨在寻找OCCC的特异性预后标志物。我们分析了169例OCCC患者的临床病理特征。通过桑格测序评估TERT启动子和PIK3CA突变,并在组织微阵列上对ARID1A、HDAC6、细胞周期蛋白E1和p53进行免疫组织化学检测。使用Kaplan-Meier和Cox回归模型进行生存分析。-124C>T TERT启动子突变与较长的总生存期(OS)和无进展生存期(PFS)相关,是OS良好的独立预测因子。该突变与较低的CA125水平及较高的单核苷酸多态性(SNP)频率相关。p53突变提示疾病进展、双侧肿瘤、细胞周期蛋白E1减少及预后不良。HDAC6低表达与较差的PFS相关。观察到PIK3CA外显子20突变与SNP之间存在相互排斥现象。-124C>T TERT启动子突变可能是OCCC的良好预后标志物,而p53突变和HDAC6表达降低与不良预后相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/406c/12384792/3d430441e730/curroncol-32-00422-g001.jpg

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