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.
0:22
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.
