Article
Pediatric-type high-grade gliomas with PDGFRA amplification in adult patients with Li-Fraumeni syndrome: clinical and molecular characterization of three cases.
Acta neuropathologica communications - 11 Apr 2024
Kibe Yuji, Ohka Fumiharu, Aoki Kosuke, Yamaguchi Junya, Motomura Kazuya, Ito Eiji, Takeuchi Kazuhito, Nagata Yuichi, Ito Satoshi, Mizutani Nobuhiko, Shiba Yoshiki, Maeda Sachi, Nishikawa Tomohide, Shimizu Hiroki, Saito Ryuta
Abstract excerpt
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 found in patients with LFS. Although molecular profiles of diffuse gliomas that develop in pediatric patients with LFS have been...
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