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Pathology · Neuropathology: vestibular schwannoma
Sample itemA 30-year-old woman has progressive bilateral sensorineural hearing loss and tinnitus. MRI shows bilateral cerebellopontine angle masses. Which gene is involved, and what is the histology?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. NF2 (merlin) inactivation, with Antoni A and B areas and Verocay bodies
Bilateral vestibular schwannomas define neurofibromatosis type 2, due to loss of the NF2 gene on chromosome 22 encoding merlin. Schwannomas show cellular Antoni A areas with palisading nuclei (Verocay bodies), loose Antoni B areas and strong S-100 positivity. Meningiomas and ependymomas are also associated.
Option by option
A. NF2 (merlin) inactivation, with Antoni A and B areas and Verocay bodies (correct)
Correct. NF2 loss gives bilateral vestibular schwannomas with Antoni A and B histology.
B. NF1 (neurofibromin) inactivation, with plexiform neurofibromas
NF1 mutation causes neurofibromas, café-au-lait spots and optic glioma, not bilateral acoustic tumours.
C. VHL inactivation, with haemangioblastoma
VHL disease causes haemangioblastomas, retinal angiomas and renal cell carcinoma.
D. TSC1 inactivation, with subependymal giant cell astrocytoma
TSC1 mutation causes tuberous sclerosis with cortical tubers and subependymal nodules.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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