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- Genetics of Developmental Disorders
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1. Imprinting disorders associated with molecular changes on chromosome 11p15
- Prof. Rosanna Weksberg
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2. Chromatin genes and disease
- Prof. Richard Gibbons
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3. Heterochromatin, epigenetics and gene expression
- Prof. Joel C. Eissenberg
- Cardiopulmonary Disease
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4. Transcription factors and complex disease development
- Dr. Ines Pineda-Torra
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5. Molecular genetics of pulmonary arterial hypertension
- Prof. Richard C. Trembath
- Neuromuscular System Diseases
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6. Gene therapy for the muscular dystrophies
- Prof. Jeff Chamberlain
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7. RAS pathway and disease: neurofibromatosis and beyond
- Prof. Eric Legius
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8. Congenital syndromes of pain and painlessness
- Prof. Geoff Woods
- Prof. James Cox
- Endocrinology and Metabolism
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9. Changing lives: stratified medicine in monogenic diabetes
- Prof. Andrew Hattersley
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10. Genetics of monogenic obesity 1
- Prof. Dr. Johannes Hebebrand
- Prof. Dr. Anke Hinney
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11. Genetics of monogenic obesity 2
- Prof. Dr. Johannes Hebebrand
- Prof. Dr. Anke Hinney
- Cancer Genetics
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13. Inherited predisposition to breast cancer
- Prof. Diana Eccles
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14. Genetics of breast and ovarian cancer
- Prof. Jeffrey Weitzel
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16. NF2-related Schwannomatosis and Gorlin Syndrome
- Prof. D. Gareth R. Evans
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17. The genetic basis of kidney cancer
- Dr. W. Marston Linehan
- Oligogenic and Complex Diseases
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18. Ciliopathies and oligogenic phenomena
- Prof. Nicholas Katsanis
- Therapy
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19. Mismatch repair deficient cancers & Lynch syndrome
- Prof. Sir John Burn
- Archived Lectures *These may not cover the latest advances in the field
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20. Mismatch repair deficient cancers: diagnosis, treatment and prevention
- Prof. Sir John Burn
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21. NF2 & Gorlins
- Prof. D. Gareth R. Evans
Printable Handouts
Navigable Slide Index
- Introduction
- NF2-related schwannomatosis: Manchester Diagnostic Criteria 1992
- NF2 criteria
- Schwannoma
- NF2: vestibular schwannoma
- Incidence of VS in North West England 1990-99
- Incidence of VS in North West England 1988-99
- VS: incidence
- Proportion of VS due to NF2
- Background study data
- Register conditions
- Regional tumour registers
- Regional tumour registers: Children
- Birth incidence and prevalence of NF
- NF2: incidence of VS
- Incidence of NF2 and schwannomatosis
- NF2: incidence and prevalence
- Death rates
- NF2: vestibular schwannoma recap
- NF2: bilateral vestibular schwannomas
- NF2: meningioma
- Mutation position
- Nonsense/frameshift mutations
- Gender: risk of meningiomas up to 80 years
- Gender: risk of meningiomas up to 20 years
- Age at onset of symptoms: 508 UK NF2 patients
- NF2: symptoms
- NF2 symptoms in 594 UK patients
- Detecting NF2 using MRI
- Residual risk of NF2 if MRI negative
- NF2: specialist care
- Specialty/non-specialty treatment centre
- Effect of age at diagnosis on survival
- Effect of meningiomas on survival
- Effect of NF2 mutation type on survival
- Severity of NF2
- NF2 mutations: genotype-phenotype
- NF2 mutational effect
- Bevacizumab: best radiographic response (VS)
- Gorlin syndrome: history
- Gorlin syndrome: incidence and prevalence
- Gorlin syndrome: skin
- Gorlin syndrome: skin lesions
- Gorlin syndrome: facial skin lesions
- Gorlin syndrome: skeleton
- Gorlin syndrome: skeleton (bifid ribs)
- Gorlin syndrome: ectopic calcification
- Gorlin syndrome: falx calcification
- Gorlin syndrome: skeleton (multiple diagnostic criteria)
- Gorlin syndrome: complications in 84 patients
- BCC cumulative risks: male and female
- BCC cumulative risks: mutation status
- Gorlin syndrome: skin management
- Gorlin syndrome: gene identification
- Gorlin syndrome: PTCH1 mutation
- Gene identification (type of mutation)
- SUFU identified in 2014 as new Gorlin gene
- Clinical features in 3 families with SUFU mutations
- Mortality study: aims
- Results: median life-expectancy (years)
- Median life expectancies in males and females
- Kaplan-Meier survival curve: NF2 males vs. healthy males
- Kaplan-Meier survival curve: NF2 females vs. healthy females
- Kaplan-Meier survival curve: pre-1985 and post-1990
- NF2 deaths
- Results: comparison with healthy population
- Median life expectancy for males and females
- Results: pre- and post-genetic register
- Conclusions
- Collaborators
Topics Covered
- Neurofibromatosis Type 2 (NF2)
- Vestibular schwannoma
- Meningiomas
- NF2 symptoms in children and adults
- Using MRI in NF2 diagnosis
- Gorlin syndrome
- Basel Cell Carcinoma (BCC)
- Gorlin syndrome gene identification
- Pre- and post-cancer register use
Links
Series:
Categories:
Therapeutic Areas:
Talk Citation
Evans, D.G.R. (2024, March 31). NF2-related Schwannomatosis and Gorlin Syndrome [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved October 14, 2024, from https://doi.org/10.69645/AVIJ6694.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Evans is a Consultant for Everythinggenetic Ltd, Astrazeneca and Springworks.
A selection of talks on Cancer
Transcript
Please wait while the transcript is being prepared...
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.