Hereditary retinoblastoma — RACP Paediatrics MCQ

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ModerateGeneticsHereditary retinoblastomaRACP Paediatrics

A 2-year-old is diagnosed with bilateral retinoblastoma. Genetic testing confirms a germline RB1 mutation. What is the inheritance pattern and what is the implication for screening?

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Correct answer: C — Retinoblastoma (hereditary)

Bilateral retinoblastoma is almost always caused by a germline RB1 mutation (autosomal dominant with high penetrance). All first-degree relatives require genetic counselling and testing. Affected children require lifelong surveillance for secondary malignancies (osteosarcoma, soft tissue sarcomas). Siblings and offspring need RB1 testing and fundoscopy screening from birth.

Reference: RACP Paediatric Curriculum – Genetics/Oncology; RCH Melbourne – 2023