NF2 & Gorlins

Published on September 3, 2014   52 min

Other Talks in the Series: Molecular Genetics of Human Disease

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0:00
So I'm Professor Gareth Evans. I'm a consultant in Manchester. and I specialized in inherited cancer predisposition syndromes. And in particular, I have an interest in neurofibromatosis and Gorlin syndrome. And today I'm going to be talking to you about Neurofibromatosis Type 2 and Gorlin Syndrome.
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So one of the main things when you diagnose a condition is to have diagnostic criteria. And on slide two, I show the original diagnostic criteria in black for Neurofibromatosis Type 2 that were derived from a NIH consensus conference in 1990. And these show that the diagnosis is very dependent on the presence of bilateral vestibular schwannomas. Now, schwannomas are benign nerve sheet tumors. And in this case they're growing on the eighth cranial nerve-- the balance branch of the eighth cranial nerve. So without a family history of NF2, you're required to have bilateral vestibular schwannomas. And we know from many publications that individuals do not always present at their first symptom with bilateral tumors. So in the early days of my studies, in the early 1990s, I expanded these criteria. And they're now more often called the Manchester criteria. So the additional colored elements in green show that you can also gain a diagnosis with a unilateral vestibular schwannoma and at least two other NF2-related tumors or multiple main tumors and two other NF2-related tumors. And these have been shown to be more sensitive criteria.