Epigenetic footprint enables molecular risk stratification of hepatoblastoma with clinical implications.

ABSTRACT:

Background & aims

Hepatoblastoma (HB) is a rare disease. Nevertheless, it is the predominant pediatric liver cancer, with limited therapeutic options for patients with aggressive tumors. Herein, we aimed to uncover the mechanisms of HB pathobiology and to identify new biomarkers and therapeutic targets in a move towards precision medicine for patients with advanced HB.

Methods

We performed a comprehensive genomic, transcriptomic and epigenomic characterization of 159 clinically annotated samples from 113 patients with HB, using high-throughput technologies.

Results

We discovered a widespread epigenetic footprint of HB that includes hyperediting of the tumor suppressor BLCAP concomitant with a genome-wide dysregulation of RNA editing and the overexpression of mainly no

SUBMITTER: Carrillo-Reixach J 

PROVIDER: S-EPMC12452110 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature