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循环肿瘤DNA:一种用于膀胱癌早期检测和个性化治疗的革命性方法。

Circulating tumor DNA: a revolutionary approach for early detection and personalized treatment of bladder cancer.

作者信息

Zhou Yan, Wang Rongzhong, Zeng Mingtang, Liu Sijia

机构信息

Department of Pharmacy, West China Hospital, Sichuan University, Chengdu, China.

West China Hospital, Sichuan University, Chengdu, China.

出版信息

Front Pharmacol. 2025 Mar 21;16:1551219. doi: 10.3389/fphar.2025.1551219. eCollection 2025.

DOI:10.3389/fphar.2025.1551219
PMID:40191434
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11968738/
Abstract

Bladder cancer is a malignant tumor with a high global incidence and recurrence rate. Traditional diagnostic methods, such as cystoscopy and urine cytology, have limitations in sensitivity and specificity, particularly in detecting low-grade bladder cancer. Circulating tumor DNA (ctDNA) offers a non-invasive alternative, reflecting tumor genetic characteristics through blood samples. It demonstrates high sensitivity and repeatability, making it a promising tool for early detection, recurrence monitoring, and treatment evaluation. Clinical studies have shown that ctDNA not only detects tumor burden but also captures dynamic tumor mutations, aiding in personalized treatment strategies. Despite its potential, clinical implementation of ctDNA faces challenges, including optimization of detection techniques, standardization, and the cost of testing. This paper explores the role of ctDNA in advancing bladder cancer diagnosis and treatment, with a focus on refining its clinical application and guiding future research toward improved patient outcomes.

摘要

膀胱癌是一种在全球发病率和复发率都很高的恶性肿瘤。传统的诊断方法,如膀胱镜检查和尿液细胞学检查,在敏感性和特异性方面存在局限性,尤其是在检测低级别膀胱癌时。循环肿瘤DNA(ctDNA)提供了一种非侵入性的替代方法,通过血液样本反映肿瘤的遗传特征。它具有高敏感性和可重复性,使其成为早期检测、复发监测和治疗评估的有前景的工具。临床研究表明,ctDNA不仅能检测肿瘤负荷,还能捕捉动态的肿瘤突变,有助于制定个性化的治疗策略。尽管具有潜力,但ctDNA的临床应用面临挑战,包括检测技术的优化、标准化以及检测成本。本文探讨了ctDNA在推进膀胱癌诊断和治疗方面的作用,重点是完善其临床应用,并指导未来的研究以改善患者预后。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8fb9/11968738/1cd84a95cca7/fphar-16-1551219-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8fb9/11968738/1cd84a95cca7/fphar-16-1551219-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8fb9/11968738/1cd84a95cca7/fphar-16-1551219-g001.jpg

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本文引用的文献

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Whole genome sequencing-powered ctDNA sequencing for breast cancer detection.用于乳腺癌检测的全基因组测序驱动的循环肿瘤DNA测序
Ann Oncol. 2025 Jun;36(6):673-681. doi: 10.1016/j.annonc.2025.01.021. Epub 2025 Feb 4.
2
Dynamically monitoring minimal residual disease using circulating tumour cells to predict the recurrence of early-stage lung adenocarcinoma.利用循环肿瘤细胞动态监测微小残留病灶预测早期肺腺癌复发。
J Hematol Oncol. 2024 Nov 21;17(1):114. doi: 10.1186/s13045-024-01637-3.
3
Whole-genome Mutational Analysis for Tumor-informed Detection of Circulating Tumor DNA in Patients with Urothelial Carcinoma.
基于全基因组突变分析的膀胱癌患者循环肿瘤 DNA 检测方法
Eur Urol. 2024 Oct;86(4):301-311. doi: 10.1016/j.eururo.2024.05.014. Epub 2024 May 29.
4
Advances in diagnosis and treatment of bladder cancer.膀胱癌的诊断与治疗进展。
BMJ. 2024 Feb 12;384:e076743. doi: 10.1136/bmj-2023-076743.
5
Research progress of CTC, ctDNA, and EVs in cancer liquid biopsy.循环肿瘤细胞(CTC)、循环肿瘤DNA(ctDNA)和细胞外囊泡(EVs)在癌症液体活检中的研究进展
Front Oncol. 2024 Jan 25;14:1303335. doi: 10.3389/fonc.2024.1303335. eCollection 2024.
6
Tumor-Agnostic Circulating Tumor DNA Testing for Monitoring Muscle-Invasive Bladder Cancer.肿瘤不可知的循环肿瘤 DNA 检测用于监测肌肉浸润性膀胱癌。
Int J Mol Sci. 2023 Nov 21;24(23):16578. doi: 10.3390/ijms242316578.
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Prognostic and predictive impact of molecular tumor burden index in non-small cell lung cancer patients.分子肿瘤负担指数对非小细胞肺癌患者的预后和预测影响。
Thorac Cancer. 2023 Nov;14(31):3097-3107. doi: 10.1111/1759-7714.15098. Epub 2023 Sep 19.
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Clinical and Genomic Landscape of FGFR3-Altered Urothelial Carcinoma and Treatment Outcomes with Erdafitinib: A Real-World Experience.FGFR3 改变的尿路上皮癌的临床和基因组特征及厄达替尼治疗的结果:真实世界经验。
Clin Cancer Res. 2023 Nov 14;29(22):4586-4595. doi: 10.1158/1078-0432.CCR-23-1283.
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Integrated longitudinal circulating tumor DNA profiling predicts immunotherapy response of metastatic urothelial carcinoma in the POLARIS-03 trial.在 POLARIS-03 试验中,整合纵向循环肿瘤 DNA 分析可预测转移性尿路上皮癌的免疫治疗反应。
J Pathol. 2023 Oct;261(2):198-209. doi: 10.1002/path.6166. Epub 2023 Aug 16.
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Biochim Biophys Acta Rev Cancer. 2023 Jul;1878(4):188926. doi: 10.1016/j.bbcan.2023.188926. Epub 2023 May 23.