Tran Nguyen H, Kisiel John, Roberts Lewis R
Department of Oncology, Mayo Clinic, Rochester, Minnesota, United States.
Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota, United States.
JHEP Rep. 2021 May 10;3(4):100304. doi: 10.1016/j.jhepr.2021.100304. eCollection 2021 Aug.
Hepatocellular carcinoma (HCC) is the most common form of primary liver cancer. Its incidence is rising faster than any other cancer in the United States and it remains one of the leading causes of cancer-related deaths worldwide. While advances in massive parallel sequencing and integration of 'omics information have transformed the field of oncology, tissue access is often limited in HCC and a single biopsy is poorly representative of the known genetic heterogeneity of tumours. Liquid biopsy has emerged as a promising strategy for analysing circulating tumour components including circulating tumour DNA. Cell-free DNA and tumour DNA are derived from necrotic, apoptotic and living eukaryotic cells. The profiling of genetic and epigenetic alterations in circulating cell-free DNA has potential clinical applications including early disease detection, prediction of treatment response and prognostication in real time. Novel biomarker candidates for disease detection and monitoring are under study. Of these, methylation analyses of circulating tumour DNA have shown promising performance for early HCC detection in at-risk patients. Assessments of assay performance in longitudinal validation cohorts are ongoing. Implementation of liquid biopsy for HCC will likely improve upon the current surveillance strategy. This review summarises the most recent developments on the role and utility of circulating cell-free DNA in the detection and management of HCC.
肝细胞癌（HCC）是原发性肝癌最常见的形式。在美国，其发病率的上升速度超过了其他任何癌症，并且它仍然是全球癌症相关死亡的主要原因之一。尽管大规模平行测序和“组学”信息整合方面的进展已经改变了肿瘤学领域，但在HCC中，组织获取往往受到限制，而且单次活检很难代表已知的肿瘤基因异质性。液体活检已成为一种有前景的策略，用于分析包括循环肿瘤DNA在内的循环肿瘤成分。游离DNA和肿瘤DNA来源于坏死、凋亡和存活的真核细胞。对循环游离DNA中的基因和表观遗传改变进行分析具有潜在的临床应用价值，包括早期疾病检测、治疗反应预测和实时预后评估。用于疾病检测和监测的新型生物标志物候选物正在研究中。其中，对循环肿瘤DNA的甲基化分析在高危患者早期HCC检测中显示出了有前景的性能。正在对纵向验证队列中的检测性能进行评估。HCC液体活检的实施可能会改进当前的监测策略。本综述总结了循环游离DNA在HCC检测和管理中的作用及应用的最新进展。
