Language

English

Publication Date

1-1-2024

Journal

Pediatric and Developmental Pathology

DOI

10.1177/10935266231204788

PMID

37903123

PMCID

PMC11015706

PubMedCentral® Posted Date

10-30-2023

PubMedCentral® Full Text Version

Post-print

Abstract

Hepatoblastomas (HB) are embryonal tumors with quiet genomes diagnosed mostly in children under 3 years of age and often cured by surgical resection and chemotherapy. However, a subset of HBs behave aggressively, displaying characteristic histologic features and higher genomic instability. Hepatocellular neoplasm-not otherwise specified (HCN-NOS) is a provisional diagnostic category for tumors exhibiting either intermediate or a combination of both HB and hepatocellular carcinoma (HCC) histological features. In this study, we characterized an HCN-NOS diagnosed in a 3-year-old patient presenting with a liver mass, in which both HB and HCC histological components were amendable to macro-dissection and molecular profiling. The spectrum of mutations, copy number changes, mRNA, and protein expression profiles within these 2 histologically distinct tumor areas demonstrate molecular heterogeneity and suggest intratumoral clonal evolution of this hepatocellular

Keywords

Child, Preschool, Humans, Carcinoma, Hepatocellular, Hepatoblastoma, Liver Neoplasms, Mutation, Neoplasms, Germ Cell and Embryonal, hepatoblastoma (HB), hepatocellular carcinoma (HCC), hepatocellular neoplasm-not otherwise specified (HCN-NOS), hepatoblastoma with carcinoma features (HBCs), immunohistochemistry (IHC)

Published Open-Access

yes

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