Li-Fraumeni syndrome

Autosomal dominant mutation of the p53 tumor suppressor gene

• Pathophysiology
  • One abnormal copy of the TP53 gene is inherited.
  • If the second allele is somatically mutated or deleted (loss of heterozygosity), it results in unregulated cell proliferation and cancer.
• Clinical features: multiple malignancies at an early age
  • Breast cancer
  • Osteosarcoma
  • Leukemia, lymphoma
  • Brain tumors
  • Adrenocortical carcinoma