Exploring The Prevalence of Telomerase Reverse Transcriptase Promoter Mutations in Bladder Cancer Patients and Their Correlation with Tumor Characteristics.

Q2 Medicine

Asian Pacific Journal of Cancer Prevention Pub Date : 2025-03-01 DOI:10.31557/APJCP.2025.26.3.1053

Hanan H Ramadhan, Omar F Abdul-Rasheed, Safaa A Mohssin Alhamedi, Safaa G Mezban

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引用次数: 0

Abstract

Objective: This work aimed to find the incidence of TERT promoter mutations in a specific patient population and to analyze their association with various tumor characteristics.

Methods: This study, conducted from April to November 2023, involved collecting 67 formalin-fixed, paraffin-embedded (FFPE) tissue samples from patients undergoing transurethral bladder resection or radical cystectomy at the Urology Department of Almawaddah Private Hospital, Basra, Iraq. The extraction of DNA was achieved through the use of purification Promega kits. TERT gene promoter mutations, C228T AND C250T were determined by Sanger sequencing using an automated DNA sequencer, by Macrogen Corporation - Korea.

Result: Among 67 bladder cancer patients, valid pTERT molecular analysis was completed in 59 cases. Of these, 30 patients (50.85%) were found to have pTERT mutations. The most common mutation was C228T, identified in 70% (21/30) of cases, followed by C250T in 33.3% (10/30), with one patient exhibiting both mutations. No significant associations were found between TERT mutations and factors such as age, sex, or smoking status. However, these mutations were more frequently observed in low-grade tumors, occurring in 63.3% (19/30) of cases. Additionally, the prevalence of TERT mutations differed significantly between non-muscle-invasive bladder cancer (NMIBC) and muscle-invasive bladder cancer (MIBC), with mutations detected in 60.4% (26/42) of NMIBC cases and 23.5% (4/17) of MIBC cases (p = 0.027). Although a slight difference in mutation frequency was noted between newly diagnosed and recurrent tumors, it did not reach statistical significance.

Conclusion: this study demonstrates a substantial prevalence of TERT promoter mutations particularly the C228T variant in bladder cancer, which was more frequently found in NMIBC compared to MIBC. No correlations were identified between TERT mutations and demographic factors such as age, sex, or smoking history.

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目的本研究旨在发现特定患者群体中TERT启动子突变的发生率，并分析其与各种肿瘤特征之间的关联：本研究于2023年4月至11月进行，收集了67份福尔马林固定、石蜡包埋（FFPE）的组织样本，样本来自伊拉克巴士拉Almawaddah私立医院泌尿科接受经尿道膀胱切除术或根治性膀胱切除术的患者。DNA 的提取是通过使用 Promega 纯化试剂盒完成的。使用韩国 Macrogen 公司生产的自动 DNA 测序仪进行 Sanger 测序，确定了 TERT 基因启动子突变 C228T 和 C250T：结果：在 67 例膀胱癌患者中，有 59 例完成了有效的 pTERT 分子分析。结果：在 67 例膀胱癌患者中，59 例完成了有效的 pTERT 分子分析，其中 30 例（50.85%）患者发现 pTERT 突变。最常见的突变是 C228T，在 70% 的病例（21/30）中发现，其次是 C250T，占 33.3%（10/30），其中一名患者同时出现两种突变。在TERT突变与年龄、性别或吸烟状况等因素之间没有发现明显的关联。不过，这些突变更多出现在低分化肿瘤中，占病例总数的63.3%（19/30）。此外，非肌肉浸润性膀胱癌（NMIBC）和肌肉浸润性膀胱癌（MIBC）的TERT突变发生率也有显著差异，NMIBC病例中有60.4%（26/42）检测到突变，MIBC病例中有23.5%（4/17）检测到突变（p = 0.027）。结论：这项研究表明，TERT启动子突变，尤其是C228T变异在膀胱癌中的发生率很高，与MIBC相比，这种突变在NMIBC中更为常见。TERT突变与年龄、性别或吸烟史等人口统计学因素之间没有相关性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Asian Pacific Journal of Cancer Prevention 医学-肿瘤学

CiteScore

2.80

自引率

0.00%

发文量

779

审稿时长

3 months

期刊介绍： Cancer is a very complex disease. While many aspects of carcinoge-nesis and oncogenesis are known, cancer control and prevention at the community level is however still in its infancy. Much more work needs to be done and many more steps need to be taken before effective strategies are developed. The multidisciplinary approaches and efforts to understand and control cancer in an effective and efficient manner, require highly trained scientists in all branches of the cancer sciences, from cellular and molecular aspects to patient care and palliation. The Asia Pacific Organization for Cancer Prevention (APOCP) and its official publication, the Asia Pacific Journal of Cancer Prevention (APJCP), have served the community of cancer scientists very well and intends to continue to serve in this capacity to the best of its abilities. One of the objectives of the APOCP is to provide all relevant and current scientific information on the whole spectrum of cancer sciences. They aim to do this by providing a forum for communication and propagation of original and innovative research findings that have relevance to understanding the etiology, progression, treatment, and survival of patients, through their journal. The APJCP with its distinguished, diverse, and Asia-wide team of editors, reviewers, and readers, ensure the highest standards of research communication within the cancer sciences community across Asia as well as globally. The APJCP publishes original research results under the following categories: -Epidemiology, detection and screening. -Cellular research and bio-markers. -Identification of bio-targets and agents with novel mechanisms of action. -Optimal clinical use of existing anti-cancer agents, including combination therapies. -Radiation and surgery. -Palliative care. -Patient adherence, quality of life, satisfaction. -Health economic evaluations.