Publications by authors named "Courtney Ketchum"
Unlabelled: DNA methylation is an essential molecular assay for central nervous system (CNS) tumor diagnostics. While some fusions define specific brain tumors, others occur across many different diagnoses. We performed a retrospective analysis of 219 primary CNS tumors with whole genome DNA methylation and RNA next-generation sequencing.
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- High-grade astrocytoma with piloid features (HGAP) is a newly identified glioma type classified by its unique global epigenetic signature and commonly associated with mutations in the MAPK pathway and other genetic alterations like CDKN2A/B deletions and ATRX mutations.
- A study involving 144 patients with HGAP confirmed frequent CDKN2A/B deletions, ATRX mutations, and noted some cases with TP53 mutations or NTRK2 gene fusions, the latter being previously unreported.
- Analysis revealed three distinct subtypes of HGAP based on DNA methylation patterns, with subtype gNF1 associated with Neurofibromatosis Type 1, specific tumor characteristics, and a potential trend towards
Article Synopsis
- Recent advancements in diagnosing central nervous system (CNS) tumors have led to a new classification system that integrates genetic and molecular data, improving alignment with clinical outcomes.
- A newly identified glioma type, characterized by a unique DNA methylation signature, shares similarities with several other brain tumors and shows distinct genetic mutations.
- Despite displaying high-grade features, this glioma type demonstrates better overall survival rates compared to glioblastoma, indicating its potential significance in treatment and prognosis.