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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
- Neurofibromatosis 2: diagnostic criteria
- Schwannoma
- NF2: vestibular schwannoma (VS)
- Age distribution at diagnosis of VS
- 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
- Incidence of vestibular schwannomas
- Incidence of NF2 and schwannomatosis
- Incidence and prevalence of NF2
- The severity of various conditions
- Back to NF2: vestibular schwannoma
- NF2 bilateral vestibular schwannomas
- NF2 meningioma
- Risk of meningioma in different mutation positions
- Meningioma in nonsense/frameshift mutations
- Risk of meningioma in female vs. male
- Risk in female vs. male with childhood onset
- Age at onset of symptoms: UK NF2 patients
- NF2 symptoms
- NF2 symptoms by percentage
- Chance of detecting NF2 using MRI
- Residual risk of NF2 if MRI negative
- NF2 specialist care
- Speciality/non speciality treatment centre
- The effect of age diagnosis on survival
- The effect of meningiomas on survival
- The effect of NF2 mutation on survival
- Severity of NF2
- NF2 mutations: genotype-phenotype
- NF2 mutational effect
- Gorlin syndrome history
- Incidence and prevalence of Gorlin
- Gorlin syndrome: skin (1)
- Gorlin syndrome: skin (2)
- Gorlin syndrome: skin (3)
- Gorlin syndrome: skeleton (1)
- Gorlin syndrome: skeleton (2)
- Gorlin syndrome: skeleton (3)
- Gorlin syndrome: skeleton (4)
- Gorlin syndrome: skeleton (5)
- Gorlin syndrome: complications
- BCC cumulative risks: male vs. female
- BCC cumulative risks: existence of mutation
- Gorlin syndrome: skin management
- Gorlin syndrome: gene identification (1)
- Gorlin syndrome: gene identification (2)
- Gorlin syndrome: gene identification (3)
- Mortality study aims
- Results: median life-expectancy (years)
- Median life-expectancy (years): male vs. female
- Males with NF2 compared with healthy males
- Females with NF2 compared with healthy females
- NF2 patients diagnosed pre 1985, and post 1990
- NF2 deaths
- Results: comparison with healthy population
- Life expectancy in tumour prone syndromes
- Familial polyposis: pre- and post-genetic register
- Conclusions
- Acknowledgements (1)
- Acknowledgements (2)
Topics Covered
- NF2
- An autosomal dominant inherited tumours predisposition syndrome
- Bilateral vestibular schwannomas
- Schwannomas of other cranial and spinal nerve routes
- Meningiomas-Ependymomas affected mainly the upper spine
- Cataracts
- Mutations in the NF2 gene Gorlin syndrome
- An autosomal dominant inherited tumours predisposition syndrome
- Multiple BCCs
- Jaw keratocysts
- Medulloblastoma
- Mutations in the PTCH gene
Links
Series:
Categories:
Talk Citation
Evans, D.G.R. (2014, September 3). NF2 & Gorlins [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved October 14, 2024, from https://doi.org/10.69645/EJRI2219.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Evans is a Consultant for Everythinggenetic Ltd, Astrazeneca and Springworks.
A selection of talks on Biochemistry
Transcript
Please wait while the transcript is being prepared...
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.