癌症中的无细胞DNA片段组学

IF 44.5 1区医学 Q1 CELL BIOLOGY

Cancer Cell Pub Date : 2025-10-02 DOI:10.1016/j.ccell.2025.09.006

W.H. Adrian Tsui, Peiyong Jiang, Y.M. Dennis Lo

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引用次数: 0

摘要

对游离DNA （cfDNA）片段模式的分析，被称为“片段组学”，为非侵入性癌症诊断开辟了新的机会。由于其与基因组组织和细胞死亡的密切关系，cfDNA片段组学处于癌症生物学许多方面的交叉点，包括表观遗传失调、转录组改变和异常细胞周转模式。文库制备、测序技术和综合表观基因组-片段组学分析的最新进展揭示了新的片段组学特征，揭示了癌症中特定的细胞功能障碍。此外，尖端的人工智能算法现在利用高维碎片组学特征，提高了癌症检测的精度和能力。最近的临床试验评估了片段组学分析在现实世界中的应用，结果很有希望支持它的潜力。在这篇综述中，我们探索了令人兴奋的cfDNA片段组学前沿，讨论了关键的未解之谜，并强调了未来的方向，以释放基于片段组学的液体活检在癌症治疗中的前景。

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Cell-free DNA fragmentomics in cancer

The analysis of cell-free DNA (cfDNA) fragmentation patterns, known as “fragmentomics,” has opened new opportunities in noninvasive cancer diagnostics. Due to its close relationships with genomic organization and cell death, cfDNA fragmentomics lies at the intersection of many aspects of cancer biology, including epigenetic dysregulation, transcriptomic alterations, and aberrant cellular turnover patterns. Recent advances in library preparation, sequencing technologies, and integrative epigenomic-fragmentomic analyses have uncovered novel fragmentomic features that reveal specific cellular dysfunctions in cancer. Additionally, cutting-edge artificial intelligence algorithms now harness high-dimensional fragmentomic features, boosting the precision and power of cancer detection. Promising results from recent clinical trials evaluating the utility of fragmentomic analyses in real-world settings support its potential. In this review, we explore the exciting frontiers of cfDNA fragmentomics, discuss critical unanswered questions, and highlight future directions to unlock the promise of fragmentomics-based liquid biopsies in cancer care.

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来源期刊

Cancer Cell 医学-肿瘤学

CiteScore

55.20

自引率

1.20%

发文量

179

审稿时长

4-8 weeks

期刊介绍： Cancer Cell is a journal that focuses on promoting major advances in cancer research and oncology. The primary criteria for considering manuscripts are as follows: Major advances: Manuscripts should provide significant advancements in answering important questions related to naturally occurring cancers. Translational research: The journal welcomes translational research, which involves the application of basic scientific findings to human health and clinical practice. Clinical investigations: Cancer Cell is interested in publishing clinical investigations that contribute to establishing new paradigms in the treatment, diagnosis, or prevention of cancers. Insights into cancer biology: The journal values clinical investigations that provide important insights into cancer biology beyond what has been revealed by preclinical studies. Mechanism-based proof-of-principle studies: Cancer Cell encourages the publication of mechanism-based proof-of-principle clinical studies, which demonstrate the feasibility of a specific therapeutic approach or diagnostic test.