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Gorlin Syndrome — SCE Medical Oncology MCQ

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ModerateCancer GeneticsGorlin SyndromeSCE Medical Oncology

A 55-year-old man with Gorlin syndrome (PTCH1 germline mutation) presents with multiple basal cell carcinomas. He also has odontogenic keratocysts. What are the key cancer risks and management?

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Correct answer: E — Gorlin syndrome: multiple BCCs (often from childhood), medulloblastoma (desmoplastic subtype, childhood), odontogenic keratocysts, ovarian fibroma and cardiac fibroma — minimise radiation exposure (increases BCC risk); vismodegib/sonidegib (Hedgehog pathway inhibitors) for advanced/multiple BCCs

Gorlin/NBCC syndrome (PTCH1 mutation): Hedgehog pathway constitutive activation → multiple BCCs. Radiation exposure significantly increases BCC development (avoid RT). Vismodegib/sonidegib target the Hedgehog pathway. Annual dermatological surveillance from childhood.

Reference: ESMO Non-melanoma Skin Cancer; NICE; PTCH1 Guidelines