1. Neurofibromatosis

2. Background
Ad hoc management of NF1 pts between a variety of specialties
Sarcoma service sees many NF1 patients and any ?MPNST
There is no commissioned service for NF1 in Bristol
There is a commissioned service for NF2

3. Aim
To provide a commissioned comprehensive service for the management of NF1 patients in conjunction with the already established NF2 service

4. NF1
Neurofibromatosis 1,
previously called von Recklinghausen’s disease
common neurocutaneous condition with an autosomal dominant pattern of inheritance
NF1 has a birth incidence of 1 in 2,500 to 1 in (180)

5. Diagnostic Criteria for Neurofibromatosis 1
(NIH consensus development conference 1988) [3]
6 or more café au lait macules (>0.5 cm in children or > 1.5 cm in adults)
2 or more cutaneous/subcutaneous neurofibromas or one plexiform neurofibroma
Axillary or groin freckling
Optic pathway glioma
2 or more Lisch nodules (iris hamartomas seen on slit lamp examination)
Bony dysplasia (sphenoid wing dysplasia, bowing of long bone +/- pseudarthrosis)
First degree relative with NF1

6. The Skin Café au lait patches and skin-fold freckling
Hypopigmented macules
Juvenile xanthogranulomas
Neurofibromas
benign peripheral nerve sheath tumours that are focal cutaneous or subcutaneous or diffuse or nodular plexiform lesions
Risk of malignant change is rare

7. Malignant peripheral nerve sheath tumours
8-13% lifetime risk NF y
hard to detect
metastasise widely
poor prognosis
arise in pre-existing plexiform neurofibromas
Diagnostic tool: 18FDG-PET

8. Neurological problems Orthopaedic Problems Cardiovascular problems
Glomus tumours
Neurological problems
Orthopaedic Problems
Cardiovascular problems
Gastrointestinal problems
Psychological problems
GENETIC COUNSELLING
50% risk of passing on the condition to an offspring

9. SPECIALIST NF1 CLINICS
The multidisciplinary team will consist of a neurologist (adult and paediatric), geneticists (including genetics counselling) and clinical nurse specialists. There are formal links to:
neurosurgery (adult and paediatric)
spinal surgery
• plastic surgery
• oncology (adult and paediatric)
• ophthalmology, neuropsychiatry
• respiratory physicians
• positron emission tomography (PET)
radiology (musculoskeletal and neuroradiology)
pathology
• peripheral nerve surgery
• sarcoma units
• craniofacial unit
• orthopaedic units

10. Close collaboration between NF1 clinicians will facilitate a uniform approach to the diagnosis and management of NF1 and its complications
Complex NF1 service has been nationally commissioned since 2009
The NF1-MPNST MDT should discuss the need for referral to a specialist sarcoma unit

11. Aims and objectives of Complex NF1 service
The overall aim of the service is to provide the highest quality of care to people with Complex Neurofibromatosis Type 1 (NF1). Specifically the Complex NF1 service aims to provide:
specialist workup of NF1 patients with suspected complex complications of the disease. Provision of accurate diagnosis of unusual phenotypes and other diseases that can be mistaken for NF1 by genetic testing and counselling
co-ordinated care from a specialist multidisciplinary team when NF1 complications behave differently from the general population
monitoring the risk of NF1 related malignancy and tumour progression
long term monitoring to evaluate need for surgery e.g. the cervical cord
compression group.
Note: Surgery, chemotherapy and radiotherapy are not covered in the designation of this national service.

12. NF2
NF2 is an autosomal dominant neurocutaneous disease that is clinically and genetically distinct from NF1
Occurs in approximately 1 in 25,000 individuals
It is caused by inactivating mutations on chromosome 22q11.2
Characterised by bilateral vestibular schwannomas and
Schwannomas on other cranial, spinal, peripheral and cutaneous nerves

13. The nationally commissioned service is for coordinated clinical care of all NF2 patients and for surgery/radiosurgery of NF2 related vestibular schwannomas.

14. NF2 patients are at risk of deafness high possibility of facial palsy
visual impairment
loss of muscle function leading to immobility

15. Management of patients through a specialist service minimises the threat of these disabilities and optimises auditory rehabilitation
The national service ensures that all NF2 patients benefit from a one-stop clinic at which they could see all the necessary specialists in a co-ordinated fashion.

16. Service description/care pathway NF2
four centres to provide multidisciplinary clinics
Cambridge (11.2 million; 190 patients)
Guys and St Thomas’ (13.2million; 224 patients
Manchester (16.7 million; 284 patients)
Oxford (9.6 million; 164 patients)

17. The national NF2 centres are commissioned to offer specialist expertise for the main NF2 tumours (Vestibular schwannoma, meningiomas, spinal tumours) and
advice regarding management of other complications (ophthalmic and peripheral neuropathy),

18. hub and spoke model neurosurgical units satellite clinics Birmingham
Newcastle
Liverpool
Plymouth
Bristol
Sheffield
Southampton

19. Multidisciplinary (MDT) NF2 clinic
• consultant neurologist
• paediatric neurologist
• neurosurgeons
• paediatric neurosurgeon
• ENT / skull base surgeons
• clinical nurse specialist
• neuroradiologist
• audiologist
• consultant clinical geneticist
• plastic surgeon
• peripheral nerve surgeon
• ophthalmologist
All patients are reviewed at least once a year in the MDT monthly clinic.

20. From england.nhs.uk
Patients must be managed in line with the specification and care standards. Any deviation from these which has not been approved by NHS England is at the trust’s risk both clinically and financially. It is the trust’s responsibility to inform the commissioners of any such non- approved deviations on an exceptional basis

21. Questions Is there a need for a Bristol based NF1 service?
As a sarcoma service are we de facto a NF spoke unit for NF1?
Is there a regional service that looks after NF1 patients?
Should we tie in with the NF2 service?
Should we be commissioned?

22. The Service Our service
We provide care for children and adults with complex and non complex neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis. 
For information about our children's service, see the Evelina London Children's Hospital website.
NF1, NF2 and schwannomatosis are inherited conditions that have a major impact on the nervous system and can result in tumour growth.
We are the UK's leading centre for complex NF1, and one of 4 national centres for NF2. 
We are an internationally recognised centre for the diagnosis of malignant peripheral nerve sheath tumours in NF1, using PET/CT with glucose (fluorodeoxyglucose).  
Our neurofibromatosis specialists work across many areas. See our team page for more information.
Our clinical nurse specialists support patients when they come to clinic and are also available to give advice via telephone and .

23. Clinical Research Clinical research
We are committed to the research of neurofibromatosis types 1 and 2, in collaboration with other national and international neurofibromatosis specialists. Current projects include:
improving the diagnosis of malignant peripheral nerve sheath tumours using methionine PET/CT (methionine forms body proteins)
sleep disorders – a significant problem in neurofibromatosis type 1
optic pathway glioma – we are currently evaluating the best way to diagnose and treat this tumour which can eventually lead to blindness in some patients with neurofibromatosis type 1
quality of life in neurofibromatosis– we are assessing the impact of complex inherited diseases on quality of life. This will help to evaluate the effect of new treatments.

24. Support Groups Support groups
Our clinical nurse specialists and psychologists run neurofibromatosis support groups for our patients and their relatives. The aim of these groups is to inform, educate and promote independence in people with neurofibromatosis.

25. Useful Websites
The Neuro Foundation website provides patient leaflets about neurofibromatosis types 1 and 2
The Children's Tumor Foundation
Changing Faces

26. Referrals
Routine
Emergency
Two week wait

27. Neurofibromatosis Team
Professor Rosalie Ferner
Consultant neurologist and national neurofibromatosis lead
Dr Shazia Afridi
Consultant neurologist and joint lead for NF2
Simeon Aluko
Appointments booking clerk
Sarah Cobb
Medical secretary
Ms Silva Atamian
Children's senior orthoptist
Dr Sally Barrington
Consultant physician
Sonia Ciampolini
Play specialist
Dr Steve Connor
Consultant neuroradiologist
Shauna Coupar
Neurofibromatosis service manager 
Simon Eccles
Consulant craniofacial and plastic surgeon
Vanessa Everett
Paediatric clinic nurse specialist 
Vasantha Gowda
Consultant children's neurologist
Tina Hemblade
Matron

28. Neurofibromatosis Team
Professor Christopher Hammond
Consultant ophthalmologist
Dr Darren Hargrave
Consultant children's neuro oncologist
Mr Dan Jiang
Consultant ENT surgeon
Dr Dragana Josifova
Consultant clinical geneticist
Mr Niall Kirkpatrick
Consultant craniofacial and plastic surgeon
Dr Karine Lascelles
Consultant children's neurologist
Dr Guy Leschziner
Consultant neurologist
Mr Jonathan Lucas
Consultant orthopaedic surgeon
Mr Anthony MacQuillan
Consultant peripheral nerve and plastic surgeon
Rebecca Mullin
Neurofibromatosis physiotherapics
Mr Charles Nduka
Consultant plastic and reconstructive surgeon
Henry Neville
Neurofibromatosis coordinator

29. Neurofibromatosis Team
Dr David Pang
Consultant in pain medicine
Mr Rupert Obholzer
Consultant ENT/skull base surgeon
Professor Shakeel Saeed
Consultant ear, nose and throat (ENT) and skull base surgeon
Dr Alistair Santhouse
Consultant psychiatrist
Dr Angela Swampillai
Consultant oncologist
Dr Ata Siddiqui
Consultant children's neuroradiologist
Dr Adam Shaw
Consultant clinical geneticist
Mary Thomas
Deputy clinical nurse specialist (NF1)
Mr Nick Thomas
Consultant neurosurgeon
Dr Satsuki Thomson
Consultant neuroradiologist
Jan Tuson
Nursing assistant
Dr Sanjay Vijayanathan
Consultant musculoskeletal radiologist
Mr Daniel Walsh
Dr Victoria Williams
Consultant neurologist
Sue Wood
Clinical nurse specialist (NF2)

30. Summary Consultants Neurologist Physician Neuro-radiologist
Craniofacial Surgeon
Children’s Neurologist
Ophthalmologist
Neuro-oncologist
Orthopaedic surgeon
Peripheral Nerve Surgeon
Pain Medicine
ENT/Skull Base
Psychiatrist
Oncologist
Children’s Neuroradiologist
Clinical Geneticist
Neurosurgeon

31. Specifically the NF2 service aims
• to improve the quality and quantity of life of NF2 patients in England
• to increase the number of NF2 patients with serviceable hearing by appropriate timing of surgery or radiotherapy
• to increase hearing rehabilitation by appropriate implantation of a cochlear or brain stem implant
• to reduce loss of function by avoidance of unnecessary surgery
• to deliver high quality holistic care through a multidisciplinary team including: neurologist, neurosurgeon, clinical geneticist, ENT consultant surgeon, ophthalmologist and specialist nursing care

32. • to provide radiological facilities appropriate to diagnosis and staging of the condition prior to planning treatment
• to provide genetic testing and counselling on mutation types
• to perform appropriate investigations to proceed to surgical treatment options if clinically indicated

33. • to provide high quality surgical treatment of patients with NF2
• to provide continuous monitoring of risk and governance to ensure that clinical treatment is safe and effective
• to carry out clinical and service audits to ensure highest standards of safety, care and clinical effectiveness.