Hepatoblastoma (LIHB)

Overview

Hepatoblastoma is the most common primary liver tumor in children, with peak incidence in the first 3 years of life. It arises from hepatic progenitor cells and is associated with Beckwith-Wiedemann syndrome and familial adenomatous polyposis (FAP/APC mutations). The molecular landscape is dominated by activating mutations of the Wnt/beta-catenin pathway (CTNNB1 in ~70%, APC in FAP-associated cases). Prognosis depends on resectability and treatment response to cisplatin-based chemotherapy.

Cohorts in the corpus

  • mixed_pipseq_2017 — PIPseq pediatric pan-cancer cohort (Columbia University Medical Center), which includes hepatoblastoma cases among 101 high-risk pediatric patients PMID:28007021.

Recurrent alterations

  • PIPseq cohort: CCND1 11q13.2 amplification with overexpression identified in a hepatoblastoma patient as a good-prognosis indicator; APC R1114* germline mutation identified in a hepatoblastoma patient as diagnostic of familial adenomatous polyposis (FAP) PMID:28007021.
  • Germline WES of 372 pediatric cancer patients (Düsseldorf) included a hepatoblastoma patient (LPP_04) carrying a monoallelic ATM pLoF LP/PV; ATM burden OR=3.2 (p=.040) in the single-cohort analysis PMID:29489754

Subtypes

  • Epithelial type: fetal (low mitotic, good prognosis), embryonal, macrotrabecular, small-cell undifferentiated (SCUD; worst prognosis).
  • Mixed epithelial and mesenchymal type.
  • Molecular: Wnt/beta-catenin activated (majority); rare NFE2L2-mutant (poor prognosis).

Therapeutic landscape

  • Cisplatin-based neoadjuvant chemotherapy (PLADO regimen) followed by surgical resection; liver transplantation for unresectable cases.

Sources

  • PMID:28007021 — Oberg et al. PIPseq pediatric pan-cancer sequencing program (n=101).

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