Diffuse astrocytoma, AYA-type, frequently MAPK-altered: report of 45 patients

• DOI: 10.1007/s00401-025-02873-8
• Publication Date: 2025-04-09T11:28:21Z
• Authors: Omkar Singh; Christopher Dampier; Zied Abdullaev; Karen Dazelle; Hye-Jung Chung; Kyle Conway; Sandra Camelo-Pir...; Stewart Neill; Daniel Brown; James Stephen Nix; Caterina Giannini; Robert Macaulay; Daniel Marker; John Skaugen; Scott Kulich; Han Lee; Orwa Aboud; Peter Pytel; Ewa Borys; Arie Perry; Laila Naqib-Osman; Igor Lima Fernandes; Qinwen Mao; Mouied Alashari; Cheddhi Thomas; Jeffrey Helgager; Maria A. Gubbiotti; John Newman; Nishant Tiwari; Patrick J. Cimino; Martha Quezado; Kenneth D. Aldape; MacLean P. Nasrallah
• Keywords: PDGFRA; Grading (engineering); Brain tumor

Abstract A putative molecular subtype of IDH-wildtype diffuse glioma with recurrent MAPK pathway alterations has recently been reported. By dimensionality reduction analysis genome-wide methylation profiling, these tumors form a distinct cluster gliomas. Characterization 47 from 45 patients reveals that gliomas are predominantly supratentorial in young adults, highly infiltrative, and harbor mitogen-activated protein kinase (MAPK) high rates CDKN2A/2B deletion, PDGFRA amplification, MYCN NF1 variants, BRAF alterations. The tumors’ epigenetics other adult pediatric the 2021 World Health Organization (WHO) classification. histology most often demonstrates high-grade astrocytic features, but can be variable tumor to tumor, as well fall into spectrum histologic grades. Outcomes show considerable variability based on grade supporting grading within this group ensure optimal care choices an individual patient basis. These unifying epigenetic, sequencing, infiltrative features allow considered astrocytoma, adolescent, adult-type, (DAYA).