Epigenetic regulation in medulloblastoma pathogenesis revealed by genetically engineered mouse models

Cancer Sci. 2021 Aug;112(8):2948-2957. doi: 10.1111/cas.14990. Epub 2021 Jun 17.

Abstract

Medulloblastoma is the most common malignant cerebellar tumor in children. Recent technological advances in multilayered 'omics data analysis have revealed 4 molecular subgroups of medulloblastoma (Wingless/int, Sonic hedgehog, Group3, and Group4). (Epi)genomic and transcriptomic profiling on human primary medulloblastomas has shown distinct oncogenic drivers and cellular origin(s) across the subgroups. Despite tremendous efforts to identify the molecular signals driving tumorigenesis, few of the identified targets were druggable; therefore, a further understanding of the etiology of tumors is required to establish effective molecular-targeted therapies. Chromatin regulators are frequently mutated in medulloblastoma, prompting us to investigate epigenetic changes and the accompanying activation of oncogenic signaling during tumorigenesis. For this purpose, we have used germline and non-germline genetically engineered mice to model human medulloblastoma and to conduct useful, molecularly targeted, preclinical studies. This review discusses the biological implications of chromatin regulator mutations during medulloblastoma pathogenesis, based on recent in vivo animal studies.

Keywords: cerebellar development; chromatin regulator; medulloblastoma; mouse model; pediatric brain tumor.

Publication types

  • Review

MeSH terms

  • Animals
  • Biomarkers, Tumor / genetics*
  • Cerebellar Neoplasms / genetics
  • Cerebellar Neoplasms / pathology*
  • Chromatin / genetics
  • Epigenesis, Genetic*
  • Gene Expression Regulation, Neoplastic
  • Genetic Engineering
  • Humans
  • Medulloblastoma / genetics
  • Medulloblastoma / pathology*
  • Mice
  • Mutation

Substances

  • Biomarkers, Tumor
  • Chromatin