利用循环无细胞 DNA 发现生物标记物以早期检测肝细胞癌的进展。

IF 4.6 3区 医学 Q2 MEDICINE, RESEARCH & EXPERIMENTAL
WIREs Mechanisms of Disease Pub Date : 2023-05-01 Epub Date: 2023-01-25 DOI:10.1002/wsbm.1598
Mingjun Liu, Zhou Zhang, Wei Zhang, Song-Mei Liu
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引用次数: 0

摘要

过去几十年来,癌症基础和临床研究取得了前所未有的进展,我们对癌症分子机制和发病机理的认识也有了很大提高。最近,随着高通量测序和剖析平台以及复杂分析工具和高性能计算能力的出现,临床肿瘤学诊断方法的发展取得了巨大进步,尤其是在发现用于癌症早期检测的新型生物标记物方面。虽然基于组织活检的病理学诊断一直是癌症诊断的 "金标准",但其显著的局限性,如侵入性风险和肿瘤内异质性导致的偏差,限制了其在肿瘤学中的广泛应用(如筛查、定期疾病监测)。液体活检分析利用了体液中的 DNA/RNA 材料(尤其是血液中的循环无细胞 DNA(cfDNA))所包含的遗传和表观遗传信息,具有取样方便、创伤小等优点,是一种令人感兴趣的替代方法。利用创新的使能技术,cfDNA 在癌症早期检测方面的临床潜力已得到证实,其中包括肝细胞癌(HCC),它是最常见的肝癌,在全球造成了严重的医疗负担。在此,我们回顾了基于 cfDNA 的癌症生物标志物发现方法的最新进展,重点介绍了基于 cfDNA 的 HCC 早期检测的最新发现。未来的临床研究和试验需要进一步验证这些早期检测 HCC 的方法,这将有助于制定更有效的预防、控制和干预策略,最终达到降低 HCC 相关死亡率的目标。本文归类于癌症 > 遗传学/基因组学/表观遗传学。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Advances in biomarker discovery using circulating cell-free DNA for early detection of hepatocellular carcinoma.

Advances in biomarker discovery using circulating cell-free DNA for early detection of hepatocellular carcinoma.

The past several decades have witnessed unprecedented progress in basic and clinical cancer research, and our understanding of the molecular mechanisms and pathogenesis of cancers have been greatly improved. More recently, with the availability of high-throughput sequencing and profiling platforms as well as sophisticated analytical tools and high-performance computing capacity, there have been tremendous advances in the development of diagnostic approaches in clinical oncology, especially the discovery of novel biomarkers for cancer early detection. Although tissue biopsy-based pathology has been the "gold standard" for cancer diagnosis, notable limitations such as the risk due to invasiveness and the bias due to intra-tumoral heterogeneity have limited its broader applications in oncology (e.g., screening, regular disease monitoring). Liquid biopsy analysis that exploits the genetic and epigenetic information contained in DNA/RNA materials from body fluids, particularly circulating cell-free DNA (cfDNA) in the blood, has been an intriguing alternative approach because of advantageous features such as sampling convenience and minimal invasiveness. Taking advantage of innovative enabling technologies, cfDNA has been demonstrated for its clinical potential in cancer early detection, including hepatocellular carcinoma (HCC), the most common liver cancer that causes serious healthcare burden globally. Hereby, we reviewed the current advances in cfDNA-based approaches for cancer biomarker discovery, with a focus on recent findings of cfDNA-based early detection of HCC. Future clinical investigations and trials are warranted to further validate these approaches for early detection of HCC, which will contribute to more effective prevention, control, and intervention strategies with the ultimate goal of reducing HCC-associated mortality. This article is categorized under: Cancer > Genetics/Genomics/Epigenetics.

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来源期刊
WIREs Mechanisms of Disease
WIREs Mechanisms of Disease MEDICINE, RESEARCH & EXPERIMENTAL-
CiteScore
11.40
自引率
0.00%
发文量
45
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