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NF2-related Schwannomatosis and Gorlin Syndrome

Published on March 31, 2024   34 min

A selection of talks on Oncology

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0:00
Hello there. I'm Professor Gareth Evans. I'm a consultant in medical genetics at University of Manchester, and I work at the Christie and St Mary's Hospitals in Manchester. I'm talking to you today about NF2 and Gorlin syndrome to inherited tumour predisposition syndromes.
0:22
I will talk to you about the diagnostic criteria for what is now called NF2-related schwannomatosis. The condition used to be called neurofibromatosis type 2 and was reclassified as NF2-related schwannomatosis as neurofibromas are not part of the condition. As you'll see from this slide, the diagnostic criteria from 1992, which were adapted from the National Institutes of Health Criteria have in black the original criteria, bilateral vestibular schwannomas, that's schwannomas on the hearing and balance nerves on both sides. Or a family history of someone with NF2 and having a unilateral vestibular schwannoma, or a family history, or a unilateral vestibular schwannoma, and two of a combination of other NF2-related tumours. You'll note here neurofibroma is still there, but this is 1992. The other way you could get a diagnosis was with multiple meningiomas and two of the other NF2-related issues.
1:33
On the next, slightly updated criteria, you can see here with Plotkin at al., published in Genetics in Medicine, and you can see now that we're talking about NF2-related schwannomatosis, some people may call it Merlin syndrome. Bilateral vestibular schwannoma is still there, but we have included now an identical pathogenic variant in at least two anatomically distinct NF2-related tumours as confirming the diagnosis. Then we've divided things up into major and minor criteria. Major criteria - you can have two major criteria to get a diagnosis. That's a unilateral vestibular schwannoma, a first degree relative other than a sibling with NF2, two or more meningiomas, as said in the previous criteria, and again, a pathogenic variant, that's a gene fault in the blood. Then minor criteria, which you can count more than once are the tumours; ependymoma and schwannoma. Then also counting only once, you have juvenile subcapsular cataracts, retinal hamartoma, epiretinal membrane at young ages, and a single meningioma. You can get a diagnosis with two major criteria, or one major and two minor criteria.
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NF2-related Schwannomatosis and Gorlin Syndrome

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