An update on the central nervous system manifestations of Li–Fraumeni syndrome

• Published in: Acta neuropathologica Vol. 139; no. 4; pp. 669 - 687
• Main Authors: Orr, Brent A., Clay, Michael R., Pinto, Emilia M., Kesserwan, Chimene
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.04.2020; Springer; Springer Nature B.V
• Subjects: Brain cancer; Brain Neoplasms - genetics; Brain Neoplasms - pathology; Brain tumors; Cancer; Central nervous system; Diagnosis; Gene mutations; Genetic aspects; Genetic Predisposition to Disease; Health aspects; Humans; Li-Fraumeni Syndrome - complications; Li-Fraumeni Syndrome - genetics; Li-Fraumeni Syndrome - pathology; Medicine; Medicine & Public Health; Nervous system; Neurosciences; Oncology, Experimental; p53 Protein; Pathology; Pediatrics; Review; Tumor proteins; Medulloblastoma; Glioblastoma; Germline surveillance; Choroid plexus carcinoma; Li–Fraumeni syndrome; Astrocytoma; p53; TP53
• ISSN: 0001-6322; 1432-0533
• DOI: 10.1007/s00401-019-02055-3

Li–Fraumeni syndrome (LFS), caused by the germline mutations in the TP53 gene, leads to significant lifetime risk to cancer in the central nervous system. Recognition of LFS, and elucidating its underlying cause has had a remarkable effect on our knowledge of the biology of brain tumors and represents a significant opportunity for cancer surveillance and screening. In this review, we discuss the historical context of the LFS with an emphasis on the clinicopathologic implications in clincal diagnosis, germline testing, and clinical management of brain tumor patients.