Molecular variants and mutations in medulloblastoma.

Published

Journal Article (Review)

Medulloblastoma is the commonest malignant brain tumor in children. Treatment with surgery, irradiation, and chemotherapy has improved outcomes in recent years, but patients are frequently left with devastating neurocognitive and other sequelae following such therapy. While the prognosis has traditionally been based on conventional histopathology and clinical staging (based on age, extent of resection, and presence or absence of metastasis), it has become apparent in recent years that the inherent biology of the tumor plays a significant part in predicting survival and sometimes supersedes clinical or pathologic risk factors. The advent of deep sequencing gene technology has provided invaluable clues to the molecular makeup of this tumor and allowed neuro-oncologists to understand that medulloblastoma is an amalgamation of several distinct disease entities with unique clinical associations and behavior. This review is a concise summary of the pathology, genetic syndromes, recent advances in molecular subgrouping, and the associated gene mutations and copy number variations in medulloblastoma. The association of molecular alterations with patient prognosis is also discussed, but it should be remembered that further validation is required in prospective clinical trials utilizing uniform treatment approaches.

Full Text

Duke Authors

Cited Authors

  • Schroeder, K; Gururangan, S

Published Date

  • January 2014

Published In

Volume / Issue

  • 7 /

Start / End Page

  • 43 - 51

PubMed ID

  • 24523595

Pubmed Central ID

  • 24523595

Electronic International Standard Serial Number (EISSN)

  • 1178-7066

International Standard Serial Number (ISSN)

  • 1178-7066

Digital Object Identifier (DOI)

  • 10.2147/PGPM.S38698

Language

  • eng