Schwannomatosis and neurofibromatosis
Schwannomatosis and neurofibromatosis
Thematic group 1
Schwannomatosis and neurofibromatosis is a group of three types of conditions in which tumours grow in the nervous system. The tumours are generally non cancerous.
The three types are:
- NF2-related schwannomatosis and mosaic NF2-related schwannomatosis
- Non-NF2-related schwannomatosis (SMARCB1-related schwannomatosis, LZTR1-related schwannomatosis, 22q-related schwannomatosis, mosaic schwannomatosis, schwannomatosis not elsewhere classified or schwannomatosis not otherwise specified)
- Neurofibromatosis type 1 (NF1), mosaic neurofibromatosis 1 and neurofibromatosis-Noonan syndrome
The cause is a genetic mutation in certain genes. In half of cases these are inherited from a person's parents while in the rest they occur due to spontaneous mutations. The tumours involve supporting cells in the nervous system rather than the neurons.
Thematic leads
The thematic leads for schwannomatosis and neurofibromatosis are:
| Rianne Oostenbrink, assistant professor paediatrics, department general paediatrics, ErasmusMC, Rotterdam, the Netherlands | |
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| Said C. Farschtschi, M.D., NF-specific genetic diagnostics and genetic counselling, Consultant neurologist, Head of phacomatoses section, Neurofibromatosis outpatient department and day clinic, Department Of Neurology, University Medical Center Hamburg-Eppendorf in Hamburg, Germany | |
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Patient representatives
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Claas Röhl, chairman of the Austrian patient organisation for NF patients "NF Kinder", ERN GENTURIS Board member. |
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João de Sousa e Silva, patient representative for NF2, NF Patients United |
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A non-exhaustive list of patient associations for genetic tumour risk syndromes in EU member states can be found here.
Healthcare Providers with expertise in Thematic Group 1 schwannomatosis and neurofibromatosis
Country |
City |
Name of Healthcare Provider |
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Austria |
Innsbruck |
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Vienna |
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Belgium |
Leuven |
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Liege |
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Czech Republic |
Prague |
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Denmark |
Aarhus |
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Copenhagen |
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Finland |
Helsinki |
GENTURISFINSN consortium (HUS Helsinki University Hospital and OYS Oulu University Hospital) |
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Turku |
The Hospital District of Southwest Finland, Turku University Hospital |
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Germany |
Dresden |
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Hamburg |
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Greece |
Athens |
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Hungary |
Pécs |
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Italy |
Milan |
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Milan |
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Padua |
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Parma |
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Rome |
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Rome |
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Netherlands |
Rotterdam |
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Portugal |
Porto |
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Spain |
Barcelona |
Hospital Germans Trias I Pujol - lnstitut Catala d'Oncologia |
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Barcelona |
*These HCPs are Affiliated Partners of ERN GENTURIS