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Li-Fraumeni syndrome — RACP Paediatrics MCQ

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HardGeneticsLi-Fraumeni syndromeRACP Paediatrics

A family is referred for genetic counselling after a 4-year-old is diagnosed with an adrenocortical carcinoma. The child's mother was treated for breast cancer at age 30, and a maternal uncle died of a sarcoma at age 25. What is the most likely cancer predisposition syndrome?

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Correct answer: E — Li-Fraumeni syndrome

A family history of early-onset breast cancer, sarcoma, adrenocortical carcinoma, and brain tumours suggests Li-Fraumeni syndrome (TP53 germline mutation, autosomal dominant). The lifetime cancer risk exceeds 90%. Surveillance protocols include annual whole-body MRI, breast MRI, and regular clinical assessment. Genetic testing should be offered to at-risk family members.

Reference: RACP Paediatric Curriculum – Genetics/Oncology