基于游离DNA的液体活检作为头颈癌潜在生物标志物。
Liquid biopsies based on cell-free DNA as a potential biomarker in head and neck cancer.
发表日期：2023 Dec
作者：
Óscar Rapado-González, Ana María Rodríguez-Ces, Rafael López-López, María Mercedes Suárez-Cunqueiro
来源：
Epigenetics & Chromatin
摘要：
在“精准医学”的时代，基于细胞外游离DNA（cfDNA）的液体活检已经成为肿瘤学领域的一种有前景的工具。来自癌症患者的cfDNA是来自健康、癌症和肿瘤微环境细胞的肿瘤（ctDNA）和非肿瘤DNA的混合物。细胞凋亡、坏死和细胞外囊泡的主要机制是cfDNA释放到生理体液中。专注于头颈部癌症（HNC），可以确定两种主要类型的cfDNA：循环cfDNA（ccfDNA）和唾液cfDNA（scfDNA）。大量研究已经报道了cfDNA分析作为HNC潜在诊断、预后和监测生物标志物的潜力。因此，ctDNA已经成为一种吸引人的策略，用于检测特异性癌症遗传和表观遗传改变，包括DNA体细胞突变和DNA甲基化模式。本综述旨在概述最新的研究，评估总cfDNA分析、cfDNA片段长度和ctDNA分析在HNC患者中在DNA突变和甲基化水平上的价值。© 2023作者们
In the era of 'precision medicine', liquid biopsies based on cell-free DNA (cfDNA) have emerged as a promising tool in the oncology field. cfDNA from cancer patients is a mixture of tumoral (ctDNA) and non-tumoral DNA originated from healthy, cancer and tumor microenvironmental cells. Apoptosis, necrosis, and active secretion from extracellular vesicles represent the main mechanisms of cfDNA release into the physiological body fluids. Focused on HNC, two main types of cfDNA can be identified: the circulating cfDNA (ccfDNA) and the salivary cfDNA (scfDNA). Numerous studies have reported on the potential of cfDNA analysis as potential diagnostic, prognostic, and monitoring biomarker for HNC. Thus, ctDNA has emerged as an attractive strategy to detect cancer specific genetic and epigenetic alterations including DNA somatic mutations and DNA methylation patterns. This review aims to provide an overview of the up-to-date studies evaluating the value of the analysis of total cfDNA, cfDNA fragment length, and ctDNA analysis at DNA mutation and methylation level in HNC patients.© 2023 The Authors.