Li-Fraumeni syndrome

Li-Fraumeni syndrome
Updated: 12/11/2018
© Jun Wang, MD, PhD

General features
  • Autosomal dominant
  • Young age onset of malignancy
  • Markedly increased risk of malignancies of different organs
  • High risk of breast cancer, brain tumors, acute leukemia, bone and soft-tissue sarcomas, bone sarcomas, and adrenal cortical carcinoma
Genetic abnormalities
  • p53
Diagnostic criteria
  • A proband diagnosed with a sarcoma before age 45 years
  • A first-degree relative with any cancer diagnosed before age 45 years
  • Another first- or second-degree relative with any cancer diagnosed before age 45 years or a sarcoma diagnosed at any age
Li-Fraumeni–like syndrome criteria
  • Birch definition
A proband with any childhood cancer or sarcoma, brain tumor, or adrenocortical carcinoma diagnosed before age 45 years
A first- or second-degree relative with a typical Li-Fraumeni cancer (sarcoma, breast cancer, brain tumor, adrenocortical carcinoma, or leukemia) at any age
A first- or second-degree relative with any cancer before age 60 years
  • Eels definition
Two first- or second-degree relatives with Li-Fraumeni–related malignancies (sarcoma, breast cancer, brain tumor, leukemia, adrenocortical tumor, melanoma, prostate cancer, pancreatic cancer) at any age
Work up
  • Molecular studies for p53 mutation

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Contents

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Lymphoid neoplasms

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