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Li-Fraumeni Syndrome (LFS) is a rare, inherited autosomal dominant cancer predisposition syndrome primarily associated with germline mutations in the TP53 tumor suppressor gene, which encodes the p53 protein, a critical regulator of the cell cycle and apoptosis.

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Scientific history:

![Milestones of Li–Fraumeni Syndrome (LFS) and p53 Research. The left column timeline shows important research developments in LFS, including discovery of the disease, identification of the underlying genetic cause, and establishment of a disease model. The right column timeline lists the equivalent key findings during 38 years of research on p53. Abbreviations: iPSC, induced pluripotent stem cell.

Zhou R, Xu A, Gingold J, Strong LC, Zhao R, Lee DF. Li–Fraumeni Syndrome Disease Model: A Platform to Develop Precision Cancer Therapy Targeting Oncogenic p53.Ā Trends in Pharmacological Sciences. 2017;38(10):908-927. doi:https://doi.org/10.1016/j.tips.2017.07.004](attachment:d318e4e3-c67c-4c98-8a31-49cea0f37cb6:gr1.jpg)

Milestones of Li–Fraumeni Syndrome (LFS) and p53 Research. The left column timeline shows important research developments in LFS, including discovery of the disease, identification of the underlying genetic cause, and establishment of a disease model. The right column timeline lists the equivalent key findings during 38 years of research on p53. Abbreviations: iPSC, induced pluripotent stem cell.

Zhou R, Xu A, Gingold J, Strong LC, Zhao R, Lee DF. Li–Fraumeni Syndrome Disease Model: A Platform to Develop Precision Cancer Therapy Targeting Oncogenic p53.Ā Trends in Pharmacological Sciences. 2017;38(10):908-927. doi:https://doi.org/10.1016/j.tips.2017.07.004

Etiopathogenesis


Genetics and Pathophysiology

Presentation


Classic LFS (Chompret Criteria) includes:

  1. Sarcoma diagnosed before age 45
  2. A first-degree relative with any cancer before 45
  3. Another first- or second-degree relative with any cancer under 45 or sarcoma at any age

Common Cancers in LFS

  1. Soft tissue and osteosarcomas
  2. Breast cancer (often premenopausal, HER2+ or triple-negative)
  3. Brain tumors (e.g., astrocytomas, medulloblastomas)