Li-Fraumeni Syndrome
Li-Fraumeni syndrome (LFS) is a rare inherited disorder caused by mutations in the TP53 tumor suppressor gene. It dramatically increases the risk of multiple cancers, often at young ages.
Table of Contents
Quick Facts
- ICD-10: Z80, Z83
- Cause: TP53 mutation
- Cancer risk: Very high, lifelong
Associated Cancers
- Breast cancer (often early-onset)
- Sarcomas (soft tissue and bone)
- Brain tumors
- Adrenocortical carcinoma
- Leukemia
- Many other cancer types possible
Diagnosis
- Family history evaluation (Chompret criteria)
- Genetic testing for TP53 mutations
Management
- Intensive cancer surveillance ('Toronto Protocol')
- Annual whole-body MRI
- Brain MRI
- Breast MRI and consider risk-reducing mastectomy
- Avoid radiation when possible (TP53 mutations increase radiation-induced cancer risk)
- Genetic counseling for relatives
Medical Disclaimer: This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider with questions about a medical condition. If you are experiencing a medical emergency, call your local emergency number immediately.
References
- National Comprehensive Cancer Network. Genetic/Familial High-Risk Assessment Guidelines.