期刊
ACTA NEUROPATHOLOGICA
卷 139, 期 4, 页码 669-687出版社
SPRINGER
DOI: 10.1007/s00401-019-02055-3
关键词
Li-Fraumeni syndrome; Choroid plexus carcinoma; Medulloblastoma; Glioblastoma; Astrocytoma; p53; TP53; Germline surveillance
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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