Hepatocellular carcinoma (HCC) is one of the few solid tumors that can be diagnosed without the need for tissue sampling. While this permits a less invasive diagnostic approach, it precludes the ability to perform mutational analysis on an otherwise biopsied specimen. In recent years, examining circulating tumor DNA (ctDNA) (liquid biopsy) has become a revolutionary method of evaluating the mutational profile of solid tumors to personalize and monitor response to cancer therapies. However, liquid biopsy is not yet well established in HCC, particularly in Hispanic patients. In this study, using ctDNA, we evaluated the mutational profile of patients with HCC with respect to ethnic variation at a single institution in California.


Between 2016 and 2019, at Community Medical Centers in Fresno, California, 33 patients diagnosed with HCC via Liver Imaging Reporting and Data System (LI-RADS) Criteria were identified via manual chart review. Foundation One Liquid CDx genomic testing was then performed on each of these patients.


Of the 33 patients, 18 were Hispanic, and only 1 had extrahepatic disease. Sixty percent of the patients had at least one pathogenic mutation identified via liquid biopsy. The frequency of mutated genes for Hispanics versus non-Hispanics respectively was: CTNNB1 (45.5% vs. 44.4%), TERT (45.5% vs. 55.6%), TP53 (36.4% vs. 55%), CDKN2A (18.2% vs. 0%). The presence of these mutations was associated with poor clinical features such as multifocal disease and higher AFP values. Other less commonly identified mutations were ERBB2, PIK3CA, DNMT3A, GNAS, KDR, RB1, and PTEN. The frequency of these mutations was similar in both Hispanic and non-Hispanic groups.


All cancers result from genetic mutations with downstream protein malformation and malignant transformation, with HCC being no exception. Serum-based detection of these mutations can contribute to personalized medicine and prognostication.