Tuberous Sclerosis Complex — SCE Neurology MCQ

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HardNeurogeneticsTuberous Sclerosis ComplexSCE Neurology

A 35-year-old woman with known epilepsy and moderate learning disability presents with facial angiofibromas, subependymal giant cell astrocytomas on MRI, and renal angiomyolipomas. She has a confirmed pathogenic TSC2 mutation. What targeted therapy is available for her brain tumour?

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Correct answer: A — Everolimus

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

Tuberous sclerosis complex (TSC) is caused by mutations in TSC1 or TSC2 genes, leading to mTOR pathway overactivation. Everolimus (an mTOR inhibitor) is approved for subependymal giant cell astrocytomas (SEGAs) that are growing and require intervention but cannot be surgically resected. It is also used for renal angiomyolipomas in TSC. A: Temozolomide is for high-grade gliomas. C: Bevacizumab is for recurrent GBM. D/E: Not relevant to TSC.

Reference: NICE TA687 Everolimus for TSC-related SEGA (2021); TSC International Consensus (2021)