Semin Liver Dis
DOI: 10.1055/s-0039-1688503
Review Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Circulating Tumor DNA and Hepatocellular Carcinoma

Ju Dong Yang
1  Division of Digestive and Liver Diseases, Department of Medicine, Cedars Sinai Medical Center, Los Angeles, California
2  Comprehensive Transplant Center, Cedars Sinai Medical Center, Los Angeles, California
3  Samuel Oschin Comprehensive Cancer Institute, Cedars Sinai Medical Center, Los Angeles, California
4  Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota
,
Minetta C. Liu
5  Department of Oncology, Mayo Clinic, Rochester, Minnesota
6  Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota
,
John B. Kisiel
4  Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota
› Author Affiliations
Funding This publication was supported in part by a gift from Mr. and Mrs. David B. Kirshenbaum (JBK).
Further Information

Publication History

Publication Date:
21 June 2019 (eFirst)

Abstract

There is a clear and unmet need for biomarkers in hepatocellular carcinoma (HCC). Circulating cell free deoxyribonucleic acid (cfDNA) is a fragmented DNA subtype, found in the blood circulation. Circulating tumor DNA (ctDNA) is the fraction of total cfDNA, which originates from the primary tumor or metastases in patients with cancer. Earlier studies reported that quantitative measurement cfDNA has diagnostic and prognostic role for HCC. More recently, improvement in next-generation sequencing technology and better understanding of genetic or epigenetic alteration of HCC have allowed comprehensive analysis of mutational and methylation landscape of ctDNA. Hotspot mutation panels and methylation panels have both shown promising performance. None of these tests have yet been validated in longitudinal cohorts for preclinical detection of HCC. In this article, the authors discuss the currently available ctDNA detection technologies, their diagnostic and prognostic performance in HCC, and future research directions.