Detection and Diagnostic Utilization of Cellular and Cell-Free Tumor DNA.

IF 28.4 1区 医学 Q1 PATHOLOGY Annual Review of Pathology-Mechanisms of Disease Pub Date : 2021-01-24 Epub Date: 2020-11-23 DOI:10.1146/annurev-pathmechdis-012419-032604
Jonathan C Dudley, Maximilian Diehn
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引用次数: 14

Abstract

Because cancer is caused by an accumulation of genetic mutations, mutant DNA released by tumors can be used as a highly specific biomarker for cancer. Although this principle was described decades ago, the advent and falling costs of next-generation sequencing have made the use of tumor DNA as a biomarker increasingly practical. This review surveys the use of cellular and cell-free DNA for the detection of cancer, with a focus on recent technological developments and applications to solid tumors. It covers (a) key principles and technology enabling the highly sensitive detection of tumor DNA; (b) assessment of tumor DNA in plasma, including for genotyping, minimal residual disease detection, and early detection of localized cancer; (c) detection of tumor DNA in body cavity fluids, such as urine or cerebrospinal fluid; and (d) challenges posed to the use of tumor DNA as a biomarker by the phenomenon of benign clonal expansions.

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细胞和非细胞肿瘤DNA的检测和诊断应用。
由于癌症是由基因突变的积累引起的,肿瘤释放的突变DNA可以作为癌症的高度特异性生物标志物。虽然这个原理在几十年前就被描述过,但随着下一代测序技术的出现和成本的下降,肿瘤DNA作为生物标志物的使用越来越实用。本文综述了细胞和游离细胞DNA在癌症检测中的应用,重点介绍了最近的技术发展及其在实体肿瘤中的应用。它涵盖了(a)实现肿瘤DNA高灵敏度检测的关键原理和技术;(b)评估血浆中的肿瘤DNA,包括基因分型、最小残留疾病检测和局部癌症的早期检测;(c)检测体腔液体(如尿液或脑脊液)中的肿瘤DNA;(d)良性克隆扩增现象给肿瘤DNA作为生物标志物的使用带来的挑战。
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来源期刊
CiteScore
62.60
自引率
0.00%
发文量
40
期刊介绍: The Annual Review of Pathology: Mechanisms of Disease is a scholarly journal that has been published since 2006. Its primary focus is to provide a comprehensive overview of recent advancements in our knowledge of the causes and development of significant human diseases. The journal places particular emphasis on exploring the current and evolving concepts of disease pathogenesis, as well as the molecular genetic and morphological changes associated with various diseases. Additionally, the journal addresses the clinical significance of these findings. In order to increase accessibility and promote the broad dissemination of research, the current volume of the journal has transitioned from a gated subscription model to an open access format. This change has been made possible through the Annual Reviews' Subscribe to Open program, which allows all articles published in this volume to be freely accessible to readers. As part of this transition, all articles in the journal are published under a Creative Commons Attribution (CC BY) license, which encourages open sharing and use of the research.
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