Li-Fraumeni syndrome

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Summary of Li-Fraumeni syndrome

Li–Fraumeni syndrome is a rare autosomal dominant hereditary disorder that predisposes one to cancer. This syndrome is also known as the sarcoma, breast, leukemia and adrenal gland syndrome and is linked to germline mutations of the p53 tumor suppressor gene. p53 encodes a transcription factor that normally regulates the cell cycle and prevents genomic mutations. The mutations can be inherited, or can arise from de novo mutations early in embryogenesis, or in one of the parent's germ cells.

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Li-Fraumeni syndrome

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Li-Fraumeni syndrome

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A 25-year-old woman is referred to a surgeon for biopsies of multiple sites. She recently presented to her general practitioner for right knee pain that had been worsening over three months, and subsequent imaging revealed a mass in her right tibia and enlargement of her left inguinal lymph nodes. Her oncologist is highly suspicious for osteosarcoma and leukemia. Her medical history is negative for any congenital defects. The surgeon completes the biopsy, and sequence analysis of the tissues shows mutations in the TP53 gene resulting in defective p53. Which of the following is the most likely diagnosis?

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