학술논문

Clinical, genomic, and epigenomic analyses of H3K27M-mutant diffuse midline glioma long-term survivors reveal a distinct group of tumors with MAPK pathway alterations.
Document Type
Article
Source
Acta Neuropathologica. Dec2023, Vol. 146 Issue 6, p849-852. 4p.
Subject
*MITOGEN-activated protein kinases
*GLIOMAS
*THALAMOCORTICAL system
*PHARMACOGENOMICS
Language
ISSN
0001-6322
Abstract
We further assembled two molecular cohorts with 258 H3K27M-DMG patients (208 STS patients) with clinical and genomic profiles (see OR) and 20 STS H3K27M-DMG patients (MNP2.0 cohort) with clinical, genomic, and tumor DNA methylation profiles. This combined retrospective molecular cohort may be a closer reflection of the prevalence of patients with LTS and MAPK alterations in the general H3K27M-DMG population (5-10%). A control cohort of 453 patients with confirmed H3K27M-DMG and OS < 18 months (short-term survival [STS]) with detailed histology, demographic, and CNS tumor location from Pratt et al. [[4]] was utilized. [Extracted from the article]