Medulloblastomics revisited: biological and clinical insights from thousands of patients

Nat Rev Cancer. 2020 Jan;20(1):42-56. doi: 10.1038/s41568-019-0223-8. Epub 2019 Dec 9.

Abstract

Medulloblastoma, a malignant brain tumour primarily diagnosed during childhood, has recently been the focus of intensive molecular profiling efforts, profoundly advancing our understanding of biologically and clinically heterogeneous disease subgroups. Genomic, epigenomic, transcriptomic and proteomic landscapes have now been mapped for an unprecedented number of bulk samples from patients with medulloblastoma and, more recently, for single medulloblastoma cells. These efforts have provided pivotal new insights into the diverse molecular mechanisms presumed to drive tumour initiation, maintenance and recurrence across individual subgroups and subtypes. Translational opportunities stemming from this knowledge are continuing to evolve, providing a framework for improved diagnostic and therapeutic interventions. In this Review, we summarize recent advances derived from this continued molecular characterization of medulloblastoma and contextualize this progress towards the deployment of more effective, molecularly informed treatments for affected patients.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Biomarkers, Tumor
  • Combined Modality Therapy
  • Disease Management
  • Disease Susceptibility*
  • Epigenomics / methods
  • Genetic Association Studies
  • Genomics / methods
  • Humans
  • Medulloblastoma / diagnosis*
  • Medulloblastoma / etiology*
  • Medulloblastoma / metabolism
  • Medulloblastoma / therapy
  • Molecular Diagnostic Techniques
  • Neoplasm Metastasis
  • Neoplasm Staging
  • Prognosis
  • Proteomics / methods
  • Recurrence
  • Treatment Outcome
  • Tumor Microenvironment

Substances

  • Biomarkers, Tumor