卵巢透明细胞癌端粒酶逆转录酶（TERT）启动子突变对预测肿瘤复发、铂耐药性和生存率的临床病理和预后价值。

IF 2.6 4区医学 Q2 GENETICS & HEREDITY

Cancer Genomics & Proteomics Pub Date : 2023-11-01 DOI:10.21873/cgp.20411

Hyunwoo Yoo, Hyun-Soo Kim

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引用次数: 0

摘要

背景/目的：卵巢透明细胞癌（OCCC）的一小部分患者携带端粒酶逆转录酶启动子（TERTp）突变。我们旨在分析TERTp突变型OCCC的临床病理和分子特征，并研究TERTp变异是否与OCCC患者的临床病理特征和预后有关。患者和方法：我们在研究中纳入了11例OCCC病例。通过对病理切片和电子医疗记录的彻底审查进行了靶向测序。结果：11个OCCC携带两个热点TERTp突变：c.1-146C>T（6/11）和c.1-124C>T。所有接受术后辅助化疗的患者（11/11）都经历了肿瘤复发，其中8例被归类为铂耐药性。TERTp突变型OCCC在化疗后6个月内显示出明显更高的术后复发和复发频率。TERTp突变显著预测OCCC患者的无病生存期（DFS）。结论：我们证明TERTp突变对预测OCCC患者的肿瘤复发、铂耐药性和更严重的DFS具有重要的预后价值。

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Clinicopathological and Prognostic Values of Telomerase Reverse Transcriptase (TERT) Promoter Mutations in Ovarian Clear Cell Carcinoma for Predicting Tumor Recurrence, Platinum Resistance and Survival.

Background/aim: A small subset of patients with ovarian clear cell carcinoma (OCCC) harbors telomerase reverse transcriptase promoter (TERTp) mutations. We aimed to analyze the clinicopathological and molecular characteristics of TERTp-mutant OCCC and investigate whether TERTp mutations are associated with the clinicopathological characteristics and outcomes of patients with OCCC.

Patients and methods: We included 11 OCCC cases in our study. Targeted sequencing was performed with a thorough review of pathology slides and electronic medical records.

Results: Eleven OCCCs harbored two hotspot TERTp mutations: c.1-146C>T (6/11) and c.1-124C>T (5/11). All patients (11/11) who underwent postoperative adjuvant chemotherapy experienced tumor recurrence, and eight of them were classified as platinum-resistant. TERTp-mutant OCCC showed significantly higher frequencies of postoperative recurrence and relapse within six months of chemotherapy. TERTp mutations significantly predicted disease-free survival (DFS) in patients with OCCC.

Conclusion: We demonstrate that TERTp mutations have significant prognostic value for predicting tumor recurrence, platinum resistance, and worse DFS in patients with OCCC.

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来源期刊

Cancer Genomics & Proteomics ONCOLOGY-GENETICS & HEREDITY

CiteScore

5.00

自引率

8.00%

发文量

期刊介绍： Cancer Genomics & Proteomics (CGP) is an international peer-reviewed journal designed to publish rapidly high quality articles and reviews on the application of genomic and proteomic technology to basic, experimental and clinical cancer research. In this site you may find information concerning the editorial board, editorial policy, issue contents, subscriptions, submission of manuscripts and advertising. The first issue of CGP circulated in January 2004. Cancer Genomics & Proteomics is a journal of the International Institute of Anticancer Research. From January 2013 CGP is converted to an online-only open access journal. Cancer Genomics & Proteomics supports (a) the aims and the research projects of the INTERNATIONAL INSTITUTE OF ANTICANCER RESEARCH and (b) the organization of the INTERNATIONAL CONFERENCES OF ANTICANCER RESEARCH.