PDF(Pubmed)
Abstract：
Technological advancements in cell-free DNA (cfDNA) liquid biopsy have triggered exponential growth in numerous clinical applications. While cfDNA-based liquid biopsy has made significant strides in personalizing cancer treatment, the exploration and translation of epigenetics in liquid biopsy to clinical practice is still nascent. This comprehensive review seeks to provide a broad yet in-depth narrative of the present status of epigenetics in cfDNA liquid biopsy and its associated challenges. It highlights the potential of epigenetics in cfDNA liquid biopsy technologies with the hopes of enhancing its clinical translation. The momentum of cfDNA liquid biopsy technologies in recent years has propelled epigenetics to the forefront of molecular biology. We have only begun to reveal the true potential of epigenetics in both our understanding of disease and leveraging epigenetics in the diagnostic and therapeutic domains. Recent clinical applications of epigenetics-based cfDNA liquid biopsy revolve around DNA methylation in screening and early cancer detection, leading to the development of multi-cancer early detection tests and the capability to pinpoint tissues of origin. The clinical application of epigenetics in cfDNA liquid biopsy in minimal residual disease, monitoring, and surveillance are at their initial stages. A notable advancement in fragmentation patterns analysis has created a new avenue for epigenetic biomarkers. However, the widespread application of cfDNA liquid biopsy has many challenges, including biomarker sensitivity, specificity, logistics including infrastructure and personnel, data processing, handling, results interpretation, accessibility, and cost effectiveness. Exploring and translating epigenetics in cfDNA liquid biopsy technology can transform our understanding and perception of cancer prevention and management. cfDNA liquid biopsy has great potential in precision oncology to revolutionize conventional ways of early cancer detection, monitoring residual disease, treatment response, surveillance, and drug development. Adapting the implementation of liquid biopsy workflow to the local policy worldwide and developing point-of-care testing holds great potential to overcome global cancer disparity and improve cancer outcomes.
摘要：
无细胞DNA(cfDNA)液体活检的技术进步在许多临床应用中引发了指数增长。虽然基于cfDNA的液体活检在个性化癌症治疗方面取得了重大进展，液体活检中表观遗传学的探索和转化为临床实践仍处于起步阶段。这篇全面的综述旨在提供关于cfDNA液体活检中表观遗传学的现状及其相关挑战的广泛而深入的叙述。它强调了表观遗传学在cfDNA液体活检技术中的潜力，希望增强其临床翻译。近年来，cfDNA液体活检技术的发展将表观遗传学推向了分子生物学的前沿。我们才刚刚开始揭示表观遗传学在我们对疾病的理解以及在诊断和治疗领域利用表观遗传学方面的真正潜力。基于表观遗传学的cfDNA液体活检的最新临床应用围绕DNA甲基化在筛查和早期癌症检测中，导致多种癌症早期检测测试的发展和精确定位起源组织的能力。表观遗传学在微小残留病cfDNA液体活检中的临床应用,监测,监视处于初始阶段。片段化模式分析的显着进步为表观遗传生物标志物创造了新途径。然而,cfDNA液体活检的广泛应用面临着许多挑战，包括生物标志物敏感性，特异性，物流，包括基础设施和人员，数据处理,处理,结果解释，可访问性,和成本效益。探索和翻译cfDNA液体活检技术中的表观遗传学可以改变我们对癌症预防和管理的理解和看法。cfDNA液体活检在精确肿瘤学中具有巨大的潜力，可以彻底改变传统的早期癌症检测方法，监测残留病，治疗反应,监视,和药物开发。使液体活检工作流程的实施适应全球本地政策并开发即时检测具有克服全球癌症差异并改善癌症预后的巨大潜力。
