Spectrum of mutations in hepatobiliary cancers based on circulating tumor DNA analysis

Abstract

Background: Hepatocellular carcinoma (HCC) and cholangiocarcinoma (CCA) are common primary liver malignancies with potential for curative surgical resection, but may often be diagnosed at late stage. Circulating tumor DNA (ctDNA) is tumor specific DNA released into circulation as tumor cells undergo apoptosis and necrosis with cell turnover and can be measured with next generation sequencing of plasma samples. It is emerging as a promising non-invasive diagnostic and monitoring tool of various solid tumors based on an individual tumor gene alteration profile. We aim to report the landscape of tumor mutations detected from ctDNA testing in a single-institution clinical cohort of patients with HCC and CCA.