血液从未如此粘稠:B细胞淋巴瘤液体活检工具箱中的无细胞DNA碎片学。

IF 5 3区 医学 Q1 HEMATOLOGY
Leo Meriranta , Esa Pitkänen , Sirpa Leppä
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引用次数: 0

摘要

利用血浆循环肿瘤DNA(ctDNA)的液体活组织检查有望彻底改变癌症治疗的决策。在淋巴瘤领域,基于ctDNA的血液检测代表了临床应用工具的前沿,可以利用数十年的基因组研究进行疾病分析、量化和检测。最近,在无细胞DNA(cfDNA)中发现了非随机片段模式,这为液体活检研究开辟了另一条途径,超越了ctDNA的突变询问。通过检查大量血浆cfDNA分子的结构特征、核苷酸含量和基因组分布,碎片组学研究旨在确定新的工具,以增强现有的基于ctDNA的分析,并发现从血液测试中鉴定癌症的新方法。事实上,异常淋巴瘤ctDNA片段模式的表征以及利用强大的机器学习技术有望释放非毛分子用于液体活检的潜力。在这篇文章中,我们综述了cfDNA片段组学作为B细胞淋巴瘤ctDNA研究的一种新兴方法。我们总结了cfDNA片段模式形成背后的生物学,并讨论了当前方法面临的预分析和技术限制。然后,我们回顾了淋巴瘤领域的进展,并设想可以探索其他基于片段特征的非侵入性工具。最后,我们将碎片组学作为新出现的多视角和多组学液体活检中ctDNA分析的一个方面。我们关注cfDNA片段生物学领域的未知因素,这些未知因素需要进一步的机制研究,为这些精确肿瘤学工具的开发和对其局限性的理解提供合理的背景。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Blood has never been thicker: Cell-free DNA fragmentomics in the liquid biopsy toolbox of B-cell lymphomas

Liquid biopsies utilizing plasma circulating tumor DNA (ctDNA) are anticipated to revolutionize decision-making in cancer care. In the field of lymphomas, ctDNA-based blood tests represent the forefront of clinically applicable tools to harness decades of genomic research for disease profiling, quantification, and detection. More recently, the discovery of nonrandom fragmentation patterns in cell-free DNA (cfDNA) has opened another avenue of liquid biopsy research beyond mutational interrogation of ctDNA. Through examination of structural features, nucleotide content, and genomic distribution of massive numbers of plasma cfDNA molecules, the study of fragmentomics aims at identifying new tools that augment existing ctDNA-based analyses and discover new ways to profile cancer from blood tests. Indeed, the characterization of aberrant lymphoma ctDNA fragment patterns and harnessing them with powerful machine-learning techniques are expected to unleash the potential of nonmutant molecules for liquid biopsy purposes. In this article, we review cfDNA fragmentomics as an emerging approach in the ctDNA research of B-cell lymphomas. We summarize the biology behind the formation of cfDNA fragment patterns and discuss the preanalytical and technical limitations faced with current methodologies. Then we go through the advances in the field of lymphomas and envision what other noninvasive tools based on fragment characteristics could be explored. Last, we place fragmentomics as one of the facets of ctDNA analyses in emerging multiview and multiomics liquid biopsies. We pay attention to the unknowns in the field of cfDNA fragmentation biology that warrant further mechanistic investigation to provide rational background for the development of these precision oncology tools and understanding of their limitations.

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来源期刊
Seminars in hematology
Seminars in hematology 医学-血液学
CiteScore
6.20
自引率
2.80%
发文量
30
审稿时长
35 days
期刊介绍: Seminars in Hematology aims to present subjects of current importance in clinical hematology, including related areas of oncology, hematopathology, and blood banking. The journal''s unique issue structure allows for a multi-faceted overview of a single topic via a curated selection of review articles, while also offering a variety of articles that present dynamic and front-line material immediately influencing the field. Seminars in Hematology is devoted to making the important and current work accessible, comprehensible, and valuable to the practicing physician, young investigator, clinical practitioners, and internists/paediatricians with strong interests in blood diseases. Seminars in Hematology publishes original research, reviews, short communications and mini- reviews.
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