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

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Abstract

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.

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Acknowledgements

Thank you to Angela McArthur Ph.D. for helpful review of the manuscript. Thank you to David Solomon M.D, Ph.D for selected case images.

Funding

This work is partially supported by NIH Grant P30 CA021765 to the St. Jude Children’s Research Hospital Comprehensive Cancer Center (PI: C. Roberts) and the American Lebanese Syrian Associated Charities (ALSAC).

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Authors and Affiliations

  1. Department of Pathology, St. Jude Children’s Research Hospital, 262 Danny Thomas Place, Memphis, TN, 38105-2794, USA

    Brent A. Orr, Michael R. Clay & Emilia M. Pinto

  2. Division of Cancer Predisposition, Department of Oncology, St. Jude Children’s Research Hospital, Memphis, TN, 38105, USA

    Chimene Kesserwan

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BAO, MRC, EMP, CK co-wrote the manuscript.

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Orr, B.A., Clay, M.R., Pinto, E.M. et al. An update on the central nervous system manifestations of Li–Fraumeni syndrome. Acta Neuropathol 139, 669–687 (2020). https://doi.org/10.1007/s00401-019-02055-3

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