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结肠癌的早期检测及循环肿瘤DNA的作用综述

A Review of the Early Detection of Colon Cancer and the Role of Circulating Tumor DNA.

作者信息

Kandel Arjun, Thida Aye M, Preet Mohan

机构信息

Internal Medicine, State University of New York Downstate Medical Center, Brooklyn, USA.

Hematology and Oncology, State University of New York Downstate Health Sciences University, Brooklyn, USA.

出版信息

Cureus. 2025 May 19;17(5):e84394. doi: 10.7759/cureus.84394. eCollection 2025 May.

DOI:10.7759/cureus.84394
PMID:40535389
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12175484/
Abstract

Colorectal cancer (CRC) is the third most commonly diagnosed cancer and the second leading cause of cancer-related deaths when both males and females are considered. Screening plays a crucial role in reducing the incidence and mortality of CRC. Traditionally, CRC screening methods are classified into stool-based and visual-based approaches. Stool-based tests include the guaiac fecal occult blood test, fecal immunochemical test, and multitarget stool DNA test, while visual-based methods encompass colonoscopy, flexible sigmoidoscopy, CT colonography, and capsule endoscopy. Circulating tumor DNA (ctDNA) has emerged as a promising, minimally invasive tool, offering encouraging sensitivity and specificity. However, its high cost remains a limitation. In this review, the authors present a comprehensive overview of current CRC screening tools, with a particular focus on the role of ctDNA.

摘要

结直肠癌(CRC)是第三大最常被诊断出的癌症,若综合考虑男性和女性,它是癌症相关死亡的第二大主要原因。筛查在降低结直肠癌的发病率和死亡率方面起着至关重要的作用。传统上,结直肠癌筛查方法分为基于粪便的方法和基于视觉的方法。基于粪便的检测包括愈创木脂粪便潜血试验、粪便免疫化学检测和多靶点粪便DNA检测,而基于视觉的方法包括结肠镜检查、乙状结肠镜检查、CT结肠成像和胶囊内镜检查。循环肿瘤DNA(ctDNA)已成为一种有前景的微创工具,具有令人鼓舞的灵敏度和特异性。然而,其高昂的成本仍然是一个限制因素。在这篇综述中,作者全面概述了当前的结直肠癌筛查工具,特别关注ctDNA的作用。

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本文引用的文献

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Cost effectiveness analysis of three colorectal cancer screening modalities in Kuwait.科威特三种结直肠癌筛查方式的成本效益分析。
Sci Rep. 2025 Mar 1;15(1):7354. doi: 10.1038/s41598-025-91119-4.
2
Circulating Tumor DNA Testing for Minimal Residual Disease and Its Application in Colorectal Cancer.循环肿瘤DNA检测用于微小残留病及其在结直肠癌中的应用
Cells. 2025 Jan 22;14(3):161. doi: 10.3390/cells14030161.
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Apoptosis: A Comprehensive Overview of Signaling Pathways, Morphological Changes, and Physiological Significance and Therapeutic Implications.细胞凋亡:信号通路、形态变化、生理意义及治疗意义的全面概述。
Cells. 2024 Nov 6;13(22):1838. doi: 10.3390/cells13221838.
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Budget Impact Analysis of Circulating Tumor DNA Testing for Colon Cancer in Commercial Health and Medicare Advantage Plans.用于商业健康保险和医疗保险优势计划的结肠癌循环肿瘤 DNA 检测的预算影响分析。
JAMA Health Forum. 2024 May 3;5(5):e241270. doi: 10.1001/jamahealthforum.2024.1270.
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Circulating tumor DNA in liquid biopsy: Current diagnostic limitation.液体活检中的循环肿瘤 DNA:当前的诊断局限性。
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Global cancer statistics 2022: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries.2022 年全球癌症统计数据:全球 185 个国家和地区 36 种癌症的发病率和死亡率全球估计数。
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Circulating Tumor DNA and Management of Colorectal Cancer.循环肿瘤DNA与结直肠癌的管理
Cancers (Basel). 2023 Dec 19;16(1):21. doi: 10.3390/cancers16010021.
8
Cost-Effectiveness of Liquid Biopsy for Colorectal Cancer Screening in Patients Who Are Unscreened.液体活检用于未经筛查的结直肠癌患者筛查的成本效益。
JAMA Netw Open. 2023 Nov 1;6(11):e2343392. doi: 10.1001/jamanetworkopen.2023.43392.
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High accuracy of a blood ctDNA-based multimodal test to detect colorectal cancer.基于血液中循环肿瘤DNA(ctDNA)的多模态检测对结直肠癌检测具有高准确性。
Ann Oncol. 2023 Dec;34(12):1187-1193. doi: 10.1016/j.annonc.2023.09.3113. Epub 2023 Oct 5.
10
Colorectal cancer detected by liquid biopsy 2 years prior to clinical diagnosis in the HUNT study.在 HUNT 研究中,液体活检在临床诊断前 2 年检测到结直肠癌。
Br J Cancer. 2023 Sep;129(5):861-868. doi: 10.1038/s41416-023-02337-4. Epub 2023 Jul 12.