An update on the central nervous system manifestations of Li-Fraumeni syndrome.
Brent A OrrMichael R ClayEmilia M PintoChimene KesserwanPublished in: Acta neuropathologica (2019)
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.
Keyphrases
- papillary thyroid
- end stage renal disease
- squamous cell
- ejection fraction
- chronic kidney disease
- newly diagnosed
- healthcare
- dna repair
- public health
- case report
- prognostic factors
- peritoneal dialysis
- squamous cell carcinoma
- ion batteries
- lymph node metastasis
- copy number
- gene expression
- dna damage
- oxidative stress
- patient reported