Expanded analysis of high-grade astrocytoma with piloid features identifies an epigenetically and clinically distinct subtype associated with neurofibromatosis type 1.

doi:10.1007/s00401-022-02513-5

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Article

Expanded analysis of high-grade astrocytoma with piloid features identifies an epigenetically and clinically distinct subtype associated with neurofibromatosis type 1.

Acta neuropathologica - 1 Jan 2023

Cimino Patrick J, Ketchum Courtney, Turakulov Rust, Singh Omkar, Abdullaev Zied, Giannini Caterina, Pytel Peter, Lopez Giselle Yvette, Colman Howard, Nasrallah MacLean P, Santi Mariarita, Fernandes Igor Lima, Nirschl Jeff, Dahiya Sonika, Neill Stewart, Solomon David, Perez Eilis, Capper David, Mani Haresh, Caccamo Dario, Ball Matthew, Badruddoja Michael, Chkheidze Rati, Camelo-Piragua Sandra, Fullmer Joseph, Alexandrescu Sanda, Yeaney Gabrielle, Eberhart Charles, Martinez-Lage Maria, Chen Jie, Zach Leor, Kleinschmidt-DeMasters B K, Hefti Marco, Lopes Maria-Beatriz, Nuechterlein Nicholas, Horbinski Craig, Rodriguez Fausto J, Quezado Martha, Pratt Drew, Aldape Kenneth

Abstract excerpt

High-grade astrocytoma with piloid features (HGAP) is a recently recognized glioma type whose classification is dependent on its global epigenetic signature. HGAP is characterized by alterations in the mitogen-activated protein kinase (MAPK) pathway, often co-occurring with CDKN2A/B homozygous deletion and/or ATRX mutation. Experience with HGAP is limited and to better understand this tumor type, we evaluated an...

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Identifiers

PMID: 36271929
DOI: 10.1007/s00401-022-02513-5
PMCID: PMC9844520

Genes

ATRX
CDKN2A
NF1
NTRK2
TP53

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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