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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.
