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

• Published in: Acta neuropathologica Vol. 145; no. 1; pp. 71 - 82
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.01.2023; Springer; Springer Nature B.V
• Subjects: Analysis; Astrocytoma; Astrocytoma - genetics; Astrocytoma - pathology; Brain Neoplasms - genetics; Brain Neoplasms - pathology; Brain tumors; DNA methylation; DNA Methylation - genetics; Epigenetic inheritance; Epigenetics; Gene deletion; Gene fusion; Genetic disorders; Genomes; Genomics; Glioma; Gliomas; Homozygote; Humans; Kinases; MAP kinase; Medicine; Medicine & Public Health; Methylation; Mutation; Mutation - genetics; Neurofibromatosis; Neurofibromatosis 1 - genetics; Neurological disorders; Neuronal-glial interactions; Neurosciences; Next-generation sequencing; Original Paper; p53 Protein; Pathology; Phenotypes; Protein kinase; Recklinghausen's disease; RNA; RNA processing; Sequence Deletion; Tumor proteins; Tumors; NF1; DNA Methylation; Neurofibromatosis type 1; High-grade astrocytoma with piloid features; HGAP

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 delet...