Management of the patient and family with neurofibromatosis 2: a consensus conference statement

  title={Management of the patient and family with neurofibromatosis 2: a consensus conference statement},
  author={Dgr Evans and Medine İrem Başer and Brian F. O'Reilly and Jeremy G. Rowe and Michael J. Gleeson and Shakeel R. Saeed and Andrew Thomas King and S. M. Huson and Richard S. C. Kerr and Nick W M Thomas and Rachel E A Irving and Robert J Macfarlane and Rosalie E. Ferner and Ross McLeod and Daniel Moffat and Richard Thomas Ramsden},
  journal={British Journal of Neurosurgery},
  pages={12 - 5}
A consensus conference on neurofibromatosis 2 (NF2) was held in 2002 at the request of the United Kingdom (UK) Neurofibromatosis Association, with particular emphasis on vestibular schwannoma (VS) surgery. NF2 patients should be managed at specialty treatment centres, whose staff has extensive experience with the disease. All NF2 patients and their families should have access to genetic testing because presymptomatic diagnosis improves the clinical management of the disease. Some clinical… 
Neurofibromatosis type 2 in the elderly population: Clinical and molecular features
NF2 can occasionally be diagnosed in people aged 70 and older, and is characterized by a high prevalence of atypical forms and a low growth potential of tumors, arguing in favor of a wait‐and‐scan policy as initial management.
Consensus Recommendations to Accelerate Clinical Trials for Neurofibromatosis Type 2
Purpose: Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disorder associated primarily with bilateral schwannomas seen on the superior vestibular branches of the eighth cranial nerves.
Therapeutics for Childhood Neurofibromatosis Type 1 and Type 2
The most common and important problems in NF1 are cognitive impairment, optic pathway gliomas, plexiform neurofibromas, and orthopaedic issues, and early intervention and tailored educational programs are indicated for learning difficulties.
Clinical course of vestibular schwannoma in pediatric neurofibromatosis Type 2.
The natural growth rate of VS in children is slow, and this oncological feature may explain the diverse clinical manifestations besides vestibular symptoms in children with NF2.
[Neurofibromatosis type 2].
An update on the diagnosis and treatment of vestibular schwannoma
The future direction of VS management lies in obtaining longer-term follow-up data for patients with treated VS, and in improved understanding of cellular pathways and targeted therapies.
Pathogenesis and management of type 2 neurofibromatosis
The results of early-phase trials targeted towards Merlin’s partners have been disappointing to date and it may be unrealistic to expect single pathway inhibition to have a measurable effect, so future work should focus on rational combinations of targeted agents and on studies to ameliorate the phenotypic features of NF2.
New developments in neurofibromatosis type 2 and vestibular schwannoma
Clinical features and treatment options for sporadic- and NF2-associated VS, the diagnostic and screening criteria, completed and ongoing clinical trials, quality of life metrics, and opportunities for future research are discussed.


Paediatric presentation of type 2 neurofibromatosis
Clinicians should suspect NF2 in children presenting with meningioma, schwannoma, and skin features, such as neurofibromas/schwannomas, but fewer than 6 café au lait patches, who thus fall short of a diagnosis of neurof fibromatosis type 1.
Vestibular schwannoma growth in patients with neurofibromatosis Type 2: a longitudinal study.
There is considerable variability in growth rates of VSs in patients with NF2, but they tend to be higher in patients who are younger at onset of signs or symptoms, while the number of non-VS cerebral or spinal tumors or different types of constitutional NF2 mutations is unknown.
Evaluation of clinical diagnostic criteria for neurofibromatosis 2
None of the existing sets of criteria for neurofibromatosis 2 are adequate at initial assessment for diagnosing people who present without bilateral vestibular schwannomas as having NF2, particularly people with a negative family history of NF2.
Skin abnormalities in neurofibromatosis 2.
The prevalence of some skin tumor types in NF2 is high and varies with disease severity, and schwannomas predominate in sampled tumors, which could be explained by an interaction between neurofibromin and the NF2 gene product in regulating the ras proto-oncogene.
Ocular abnormalities in neurofibromatosis 2.
A variety of ocular abnormalities are present in neurofibromatosis 2, including cataracts, retinal hamartomas, and ocular motor deficits, many of which are developmental or acquired early in life and may assist in presymptomatic diagnosis.
Neurofibromatosis 2 in the Pediatric Population
Increased clinical awareness, better imaging techniques, and molecular diagnostics have made pediatric diagnosis of neurofibromatosis 2 feasible, but outcomes appear to be worse than in adult patients.
Use of MRI and audiological tests in presymptomatic diagnosis of type 2 neurofibromatosis (NF2)
Details of patients who have been detected as having VS on a screening MRI scan without any known central nervous system pathology, signs, or symptoms are analysed.
Focal amyotrophy in neurofibromatosis 2.
Clinical, electrophysiological, and imaging data from four NF2 patients seen at a specialist neurofibromatosis clinic over a 4 year period are described in whom symptomatic focal amyotrophy preceded the diagnosis of NF2.
Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity.
There are likely two rather than three subtypes of neurofibromatosis 2, and classification of patients to subtype may aid in counseling about long-term prognosis and in formulating individualized guidelines for medical surveillance.