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- Title
Clinical, genomic, and epigenomic analyses of H3K27M-mutant diffuse midline glioma long-term survivors reveal a distinct group of tumors with MAPK pathway alterations.
- Authors
Roberts, Holly J.; Ji, Sunjong; Picca, Alberto; Sanson, Marc; Garcia, Mekka; Snuderl, Matija; Schüller, Ulrich; Picart, Thiébaud; Ducray, François; Green, Adam L.; Nakano, Yoshiko; Sturm, Dominik; Abdullaev, Zied; Aldape, Kenneth; Dang, Derek; Kumar-Sinha, Chandan; Wu, Yi-Mi; Robinson, Dan; Vo, Josh N.; Chinnaiyan, Arul M.
- 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.
- Subjects
MITOGEN-activated protein kinases; GLIOMAS; THALAMOCORTICAL system; PHARMACOGENOMICS
- Publication
Acta Neuropathologica, 2023, Vol 146, Issue 6, p849
- ISSN
0001-6322
- Publication type
Article
- DOI
10.1007/s00401-023-02640-7