NF2 — SCE Medical Oncology MCQ

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ModerateCancer GeneticsNF2SCE Medical Oncology

A 55-year-old woman with multiple meningiomas is found to have a germline NF2 mutation. What syndrome does this represent and what tumours is she at risk of?

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Correct answer: C — Neurofibromatosis type 2 (NF2/merlin) — bilateral vestibular schwannomas (hallmark), multiple meningiomas, ependymomas, and peripheral schwannomas

NF2 (formerly neurofibromatosis type 2, now NF2-related schwannomatosis) is caused by NF2/MERLIN gene mutations. The hallmark is bilateral vestibular schwannomas (acoustic neuromas). Other features include multiple meningiomas, spinal ependymomas, and peripheral schwannomas. Management includes: MRI surveillance of the entire neuraxis, hearing assessment, specialist neurosurgical care, and consideration of bevacizumab for progressive vestibular schwannomas (off-label, showing efficacy in reducing tumour size and improving hearing).

Reference: NICE NG99; ESMO 2024 CNS Tumours; NF2 Guidelines; Evans et al Lancet Neurol 2009