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PTEN hamartoma syndrome — RACP Paediatrics MCQ

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HardGeneticsPTEN hamartoma syndromeRACP Paediatrics

A 9-year-old is confirmed to carry the familial pathogenic TP53 variant. Examination is normal and there is no previous malignancy. Which surveillance component should commence under Australian eviQ guidance?

Educational content. Not a substitute for clinical judgement or local policy.

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Correct answer: C — Annual whole-body MRI with dedicated brain MRI alternating six-monthly

Explanation lettering: C = shown as A · D = shown as B · B = shown as C · E = shown as D · A = shown as E

B is correct because eviQ recommends comprehensive surveillance from diagnosis, including annual whole-body MRI and annual dedicated brain MRI arranged so imaging alternates at six-month intervals. A creates substantial cumulative ionising radiation in a cancer-predisposition syndrome. C is too narrow and infrequent. D lacks sensitivity across the broad TP53 tumour spectrum. E incorrectly equates radiation avoidance with avoidance of MRI and forfeits earlier detection. Anaesthetic burden and incidental findings require individualised specialist discussion, but they do not justify abandoning the protocol.

Reference: eviQ, TP53 Li-Fraumeni syndrome risk management in children: https://www.eviq.org.au/cancer-genetics/paediatric/risk-management/1349-tp53-li-fraumeni-risk-management-child