Radiation Oncology/Cancer Syndromes/Li-Fraumeni
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Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
[edit | edit source]- Gene Clinics Entry
- Originally published by Li & Fraumeni in 1969
- 6 component tumors inherited in an autosomal dominant manner: osteosarcomas, soft-tissue sarcomas, premenopausal breast cancer, brain tumors, adrenal cortical tumors, and acute leukemias
- Since then, also increased risk of: melanoma, GI (esophagus, stomach, colon/rectum, pancreas), gonadal germ cell tumors, breast cancer/phyllodes tumor, Wilms' tumor, lung, thyroid, GYN (ovary, endometrium, cervix), prostate
- Classic Li-Fraumeni Syndrome (LFS) criteria:
- A proband with a sarcoma diagnosed before 45 years of age AND
- A first-degree relative with any cancer under 45 years of age AND
- A first- or second-degree relative with any cancer under 45 years of age or a sarcoma at any age
- Li-Fraumeni-like Syndrome (LFL) criteria:
- A proband with any childhood cancer or sarcoma, brain tumor, or adrenal cortical tumor diagnosed before 45 years of age AND
- A first- or second-degree relative with a typical LFS cancer (sarcoma, breast cancer, brain tumor, adrenal cortical tumor, or leukemia) at any age AND
- A first- or second-degree relative with any cancer under the age of 60 years
- Cancer risk: ~50% by age 40, 85-90% lifetime
- Approximately 50% have a p53 mutation
- 400 families identified world-wide
- Individuals with LFS/LFL should avoid RT
p53 Mutation
[edit | edit source]- Classically associated with Li Fraumeni syndrome; approximately 50% of Li Fraumeni patients have p53 mutation
- Associated with a wide spectrum of cancers, including choroid plexus tumors
- "4 core cancers": sarcoma, brain tumor, breast cancer or adrenocorticoid carcinoma before age 50
- PMID 19204208