High Frequency of <i>CTNNB1</i> Variants Associated with Benign and Malignant Liver Tumors in Patients with Congenital Porto-Systemic Shunts.

ABSTRACT:

Introduction

Patients born with congenital porto-systemic shunts have been shown to have a high risk of benign and malignant liver tumors in otherwise healthy livers. This study aimed to evaluate the genetic landscape of liver tumors in patients with congenital porto-systemic shunts (CPSS) and correlate genotype with histological findings.

Methods

Nodules from patients with CPSS and sporadic pediatric focal nodular hyperplasia (FNH) or FNH-like nodules were evaluated histologically and sequenced for a panel of 50 genes using next-generation sequencing.

Results

Thirty-eight nodules from 17 patients with CPSS were histologically classified as hepatoblastomas (n = 2), hepatocellular carcinomas (n = 4), HNF-1α-inactivated hepatocellular adenomas (HCAs) (n

SUBMITTER: Tyraskis A 

PROVIDER: S-EPMC12360745 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature