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Handb Clin Neurol. 2018;148:785-797. doi: 10.1016/B978-0-444-64076-5.00050-8.

Brain cancer genomics and epigenomics.

Author information

1
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States; Broad Institute of Harvard and MIT, Cambridge, MA, United States.
2
Department of Neurology, Emory University School of Medicine, Atlanta, GA, United States.
3
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States; Broad Institute of Harvard and MIT, Cambridge, MA, United States. Electronic address: Scott.Pomeroy@childrens.harvard.edu.

Abstract

Classically, brain cancers have been graded and diagnosed based on histology and risk stratified by clinical criteria. Recent advances in genomics and epigenomics have ushered in an era of defining cancers based on molecular criteria. These advances have increased our precision of identifying oncogenic driving events and, most importantly, increased our precision at predicting clinical outcome. For the first time in its history, the 2016 revision of the WHO Classification of Tumors of the Central Nervous System included molecular features as tumor classification criteria. Brain tumors can develop in the context of genetic cancer predisposition syndromes, such as Li-Fraumeni or Gorlin syndrome, but by far most commonly arise through the acquisition of somatic mutations and chromosome changes in the malignant cells. By taking a survey across this cancer landscape, certain themes emerge as being common events to drive cancer: DNA damage repair, genomic instability, mechanistic target of rapamycin pathway, sonic hedgehog pathway, hypoxia, and epigenetic dysfunction. Understanding these mechanisms is of paramount importance for improving targeted therapies, and for identifying the right patients for those therapies.

KEYWORDS:

ETMR; SWI/SNF; cancer genomics; embryonal tumors; epigenomics; glioma; medulloblastoma; primitive neuroectodermal tumors; rhabdoid tumors; von Hippel–Lindau disease

[Indexed for MEDLINE]

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