Case Series| Volume 20, ISSUE 6, P581-585, December 2022

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Two Clinical Cases of Li-Fraumeni Syndrome and Prostate Cancer: Genetic Counseling and Clinical-Surgical Management


      • Li-Fraumeni syndrome is a rare genetic disease that is associated with an increased rate of certain cancers in patients, including prostate cancer.
      • Early diagnostic management of prostate cancer is recommended. Screening should start before the age of 40 and aggressive treatment should be applied due to the nature of the disease.
      • The preferred therapeutic option is surgery because of the high rate of resistance to radiotherapy and to certain cytotoxic agents, as well as the increased risk of secondary tumors.
      • The effectiveness of hormone therapy in Li-Fraumeni syndrome is uncertain due to the lack of current evidence.

      Clinical Practice Points

      • The present article treats about Li-Fraumeni syndrome (LFS), a genetic disease with autosomal dominant transmission which is associated with an increased predisposition to suffer certain cancers. However, prostate cancer has not been recognized as one of the main neoplasms associated with LFS, and so its diagnosis is not included in LFS screening programs.
      • Urologists should make a prompt identification of patients or relatives at risk of suffering Li- Fraumeni syndrome, and referral to a genetic counseling unit. Prompt diagnosis and treatment of prostate cancer is important.
      • Given the aggressive nature of the condition in carriers of a PT53 gene mutation, radical surgery is the first option in localized disease. As this condition confers higher risk of developing secondary tumors, radiotherapy and chemotherapy should be avoided. There is no clear evidence regarding the usefulness of hormone therapy in these patients.
      • We consider that the recommendations set out in the article can help urologist in the management of patients diagnosed with LFS and suspected prostate cancer.

      Graphical Abstract



      LFS (Li-Fraumeni syndrome), ADT (Androgen deprivation therapy), MDS (Myelodysplastic syndrome), NGS (Next generation sequencing), mHSPC (Metastatic hormone-sensitive prostate cancer)
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