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Molecular Genetics of Medulloblastoma

  1. Mustafa Nadi,
  2. James Rutka

Published Online: 15 FEB 2013

DOI: 10.1002/9780470015902.a0023577



How to Cite

Nadi, M. and Rutka, J. 2013. Molecular Genetics of Medulloblastoma. eLS. .

Author Information

  1. The University of Toronto, Toronto, Ontario, Canada

Publication History

  1. Published Online: 15 FEB 2013


Medulloblastoma (MB), the most common malignant paediatric brain tumour, arises in the cerebellum. Recent high-throughput technology that includes ribonucleic acid-based expression analysis and deoxyribonucleic acid (DNA)-based copy number analysis, as well as whole-genome sequencing studies have unravelled the mysteries of this embryonic tumour from clinical, histological and molecular standpoints. Studies of hereditary syndromes associated with MB have led to an increased understanding of the genomics of this tumour. Signalling pathways and growth factors, which are crucial in normal cerebellum development, are also involved in MB formation. The molecular discoveries in the last decade have led to advances in two major areas: (1) The clinical and molecular subgrouping of patients and their stratification; and (2) research being performed to individualise treatments according to the genetics of the patient's tumour. The use of extensive cancer genetic databases will ensure that future discoveries in MB pathogenesis will be made.

Key Concepts:

  • There is more than one cell of origin for MB.

  • MBs are genetically and histologically heterogeneous.

  • MB growth is similar to the normal growth of the cerebellum but it is growth gone awry.

  • Signalling pathways play significant roles in cerebellar growth. Mutations in these pathways lead to tumour formation.

  • Growth factor and DNA repair pathway mutations may drive MB formation.

  • MB in adults is different from that in children.

  • Metastatic MB has specific genomics that are different from the primary tumour in the same patient.

  • The new molecular discoveries have important prognostication impact.

  • The next era is to individualise novel therapies against each patient's MB.


  • medulloblastoma genetics;
  • Signalling pathways;
  • growth factors;
  • DNA repair pathways;
  • hereditary syndromes;
  • prognostication