Mutational patterns and ancestry-linked profiles in a large hepatocellular carcinoma and combined hepatocellular-cholangiocarcinoma cohort.

ABSTRACT:

Background

Despite significant therapeutic advancements, hepatocellular carcinoma (HCC) remains a highly fatal malignancy. To accelerate the development of targeted therapies, a comprehensive understanding of the spectrum of genomic alterations (GAs) is essential. Here, we present what is, to our knowledge, the largest genomic analysis of real-world HCC and combined HCC-cholangiocarcinoma (cHCC-CCA) patients.

Patients and methods

Tumor samples from 2372 HCC patients and 150 patients with cHCC-CCA underwent genomic profiling using the FoundationOne® platform covering >290 genes, as well as tumor mutational burden (TMB) and microsatellite status.

Results

Our comprehensive and representative analysis included 1793 male and 577 female patients across five genetic ancestri

SUBMITTER: Gerdes C 

PROVIDER: S-EPMC12857332 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature