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BWS tumour screening — RACP Paediatrics MCQ

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HardGeneticsBWS tumour screeningRACP Paediatrics

A 6-month-old with Beckwith-Wiedemann spectrum has molecular confirmation of mosaic paternal uniparental disomy of chromosome 11p15. Baseline abdominal ultrasound is normal. Which tumour-surveillance plan is recommended by eviQ?

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

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Correct answer: B — Three-monthly abdominal ultrasound from diagnosis until 7 years of age

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

C is correct because paternal 11p uniparental disomy carries clinically important Wilms tumour and hepatoblastoma risk; eviQ recommends abdominal ultrasound every three months from birth to age 7. A confuses this higher-risk subtype with IC2 loss of methylation, for which eviQ finds no proven routine-surveillance benefit. B starts too late and too infrequently. D is a Li-Fraumeni-style protocol, not BWS surveillance. E omits ultrasound and eviQ does not recommend AFP-only surveillance. Molecular subtype matters, so the inaccurate original description of IC2 hypermethylation has been removed.

Reference: eviQ, Beckwith-Wiedemann syndrome risk management: https://www.eviq.org.au/cancer-genetics/paediatric/risk-management/3700-beckwith-wiedemann-syndrome-risk-management