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Molecular variants and mutations in medulloblastoma.

dc.contributor.author Gururangan, Sridharan
dc.contributor.author Schroeder, Kristin M
dc.coverage.spatial New Zealand
dc.date.accessioned 2017-08-01T05:53:59Z
dc.date.available 2017-08-01T05:53:59Z
dc.date.issued 2014
dc.identifier https://www.ncbi.nlm.nih.gov/pubmed/24523595
dc.identifier pgpm-7-043
dc.identifier.issn 1178-7066
dc.identifier.uri https://hdl.handle.net/10161/15103
dc.description.abstract 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.
dc.language eng
dc.relation.ispartof Pharmgenomics Pers Med
dc.relation.isversionof 10.2147/PGPM.S38698
dc.subject adults
dc.subject children
dc.subject medulloblastoma
dc.subject molecular subgroups
dc.subject mutations
dc.title Molecular variants and mutations in medulloblastoma.
dc.type Journal article
pubs.author-url https://www.ncbi.nlm.nih.gov/pubmed/24523595
pubs.begin-page 43
pubs.end-page 51
pubs.organisational-group Clinical Science Departments
pubs.organisational-group Duke
pubs.organisational-group Faculty
pubs.organisational-group Pediatrics
pubs.organisational-group Pediatrics, Hematology-Oncology
pubs.organisational-group School of Medicine
pubs.publication-status Published online
pubs.volume 7


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