Path-30. Genomic Landscape of Central Nervous System Tumors
Year: 2017
Type: conference-abstract
Abstract: Molecular taxonomy augments traditional histopathology in defining tumor subclasses and improves clinical risk stratification. We investigated the molecular signatures of over 2,000 central nervous system (CNS) tumors using a clinical multiplexed next-generation sequencing assay, to investigate cardinal mutations, copy number alterations, and rearrangements. These included over 1000 gliomas, 170 meningiomas, 150 pituitary adenomas, 25 vestibular schwannomas, and other less common pathologies. Machine learning clustering analysis partitioned CNS tumors into four robust categories, with critical contribution from the extent of copy number alterations within tumors. An unbiased decision tree constructed based on the entropic contribution of the molecular features in our dataset recapitulated the known histological subtypes among gliomas and suggests a rank order of significance in molecular signatures. We further correlated the genomic data with clinical annotation and survival outcomes to provide prognostic guidance in the interpretation of molecular signatures. Lastly, we described the role of targetable oncogenic pathways in specific cancers to postulate potential therapeutic venues in CNS tumors. This analysis of a large series of CNS tumors from a clinical setting confirms previously identified molecular subclasses for diverse tumors, describe the incidence of genomic alterations in specific tumors, and present potential novel signatures that emerge with large-scale profiling of tumors.
Source: Neuro-Oncology
Institutions: Brigham and Women's Hospital, Dana-Farber Cancer Institute
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2767655163