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Radiation Oncology/Cancer Syndromes/Li-Fraumeni

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Li-Fraumeni Syndrome


Li-Fraumeni Syndrome

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  • 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

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  • 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
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