Pediatric-type high-grade gliomas with PDGFRA amplification in adult patients with Li-Fraumeni syndrome: clinical and molecular characterization of three cases

Abstract Li-Fraumeni syndrome (LFS) is an autosomal dominant tumor predisposition syndrome caused by heterozygous germline mutations or deletions in the TP53 tumor suppressor gene. Central nervous system tumors, such as choroid plexus tumors, medulloblastomas, and diffuse gliomas, are frequently fou...

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Autors principals:	Yuji Kibe, Fumiharu Ohka, Kosuke Aoki, Junya Yamaguchi, Kazuya Motomura, Eiji Ito, Kazuhito Takeuchi, Yuichi Nagata, Satoshi Ito, Nobuhiko Mizutani, Yoshiki Shiba, Sachi Maeda, Tomohide Nishikawa, Hiroki Shimizu, Ryuta Saito
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2024-04-01
Col·lecció:	Acta Neuropathologica Communications
Matèries:	Li-Fraumeni syndrome Pediatric-type high-grade glioma H3-wildtype and IDH-wildtype PDGFRA amplification
Accés en línia:	https://doi.org/10.1186/s40478-024-01762-7
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