Chua Megan Wern-Ee, Chan Dedrick Kok-Hong
Department of Colorectal Surgery, National University Hospital, Singapore 119074, Singapore.
World J Gastrointest Oncol. 2025 Aug 15;17(8):106663. doi: 10.4251/wjgo.v17.i8.106663.
Detection and treatment of colorectal cancer (CRC) at an early stage is vital for long-term survival. Liquid biopsy has emerged as a promising new avenue for non-invasive screening of CRC as well as prognostication and surveillance of minimal residual disease. Cell free DNA (cfDNA) is a promising liquid biopsy analyte and has been approved for use in clinical practice. Here, we explore the current challenges of utilizing cfDNA in the screening and prognostication of CRC but also for detecting driver mutations in healthy, presymptomatic patients with normal colonic crypts. CfDNA for the detection of cancerous or premalignant colonic lesions has already been extensively explored, however few have considered utilizing cfDNA in the detection of driver mutations in healthy patients. Theoretically, this would allow us to detect patients who are at a higher risk of tumorigenesis decades in advance of established malignancy and stratify them into higher risk groups for early-intervention screening programs. We also explore the solutions necessary to overcome the challenges that prevent liquid biopsy from entering mainstream clinical use. The potential for liquid biopsy is immense if these challenges are successfully circumvented, and can dramatically reduce CRC rates as well as improve survival in patients.
早期检测和治疗结直肠癌(CRC)对于长期生存至关重要。液体活检已成为一种有前景的新途径,可用于CRC的非侵入性筛查以及微小残留病的预后评估和监测。游离DNA(cfDNA)是一种有前景的液体活检分析物,已被批准用于临床实践。在此,我们探讨了在CRC筛查和预后评估中利用cfDNA的当前挑战,同时也探讨了在健康的、无症状的结肠隐窝正常患者中检测驱动突变的挑战。用于检测癌性或癌前结肠病变的cfDNA已经得到广泛研究,然而很少有人考虑在健康患者中利用cfDNA检测驱动突变。从理论上讲,这将使我们能够在既定恶性肿瘤出现前几十年检测出具有更高肿瘤发生风险的患者,并将他们分层到更高风险组,以便进行早期干预筛查计划。我们还探讨了克服阻碍液体活检进入主流临床应用的挑战所需的解决方案。如果这些挑战能够成功规避,液体活检的潜力将是巨大的,并且可以显著降低CRC发病率,提高患者生存率。