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Neurofibromatosis 2 (Neurofibromatosis Type II)

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An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas (NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the NF2 gene (GENES, NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life.

Also Known As:

Neurofibromatosis Type II; Bilateral Acoustic Neurofibromatosis; Neurofibromatosis Type 2; Neurofibromatosis II; 2 Neurofibromatosis, Type; Familial Acoustic Neuroma; Type II Neurofibromatosis; Schwannoma, Acoustic, Bilateral; Acoustic Neurinoma, Bilateral; Acoustic Schwannomas, Bilateral; Familial Acoustic Neuromas; NF2 (Neurofibromatosis 2); Neurofibromatosis, Central NF2; Neurofibromatosis, Central, NF 2; Neurofibromatosis, Type 2; Neurofibromatosis, Type II; Acoustic Neurinomas, Bilateral; Acoustic Neurofibromatoses, Bilateral; Acoustic Neurofibromatosis, Bilateral; Acoustic Neuroma, Familial; Acoustic Neuromas, Familial; Acoustic Schwannoma, Bilateral; Bilateral Acoustic Neurinoma; Bilateral Acoustic Neurinomas; Bilateral Acoustic Neurofibromatoses; Bilateral Acoustic Schwannoma; Bilateral Acoustic Schwannomas; Central NF2 Neurofibromatoses; Central NF2 Neurofibromatosis; NF2s (Neurofibromatosis 2); Neurinoma, Bilateral Acoustic; Neurinomas, Bilateral Acoustic; Neurofibromatoses, Bilateral Acoustic; Neurofibromatoses, Central NF2; Neurofibromatoses, Type 2; Neurofibromatoses, Type II; Neurofibromatosis IIs; Neurofibromatosis, Bilateral Acoustic; Neuroma, Familial Acoustic; Neuromas, Familial Acoustic; Schwannoma, Bilateral Acoustic; Schwannomas, Bilateral Acoustic; Type 2 Neurofibromatoses; Type 2 Neurofibromatosis; Type II Neurofibromatoses; Neurofibromatosis, Acoustic, Bilateral; Neurofibromatosis, Central, NF2; Neuroma, Acoustic, Bilateral

Networked: 502 relevant articles (7 outcomes, 36 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Neoplasms (Cancer)
2.	Acoustic Neuroma (Acoustic Neurinoma)
3.	Deafness (Deaf Mutism)
4.	Neurilemmoma (Schwannoma)
5.	Meningioma (Meningiomas)

Experts

1.	Giovannini, Marco: 16 articles (07/2015 - 08/2002)
2.	Plotkin, Scott R: 14 articles (11/2015 - 01/2009)
3.	Gutmann, David H: 13 articles (01/2014 - 09/2002)
4.	Hanemann, C Oliver: 11 articles (11/2013 - 07/2003)
5.	Mautner, Victor-Felix: 8 articles (12/2015 - 07/2007)
6.	Morrison, Helen: 8 articles (01/2015 - 12/2002)
7.	Brackmann, Derald E: 8 articles (01/2014 - 01/2003)
8.	Stemmer-Rachamimov, Anat O: 7 articles (11/2015 - 10/2008)
9.	Colletti, Vittorio: 7 articles (01/2014 - 07/2005)
10.	Shannon, Robert V: 7 articles (01/2014 - 01/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Neurofibromatosis 2:

1.	bevacizumab FDA Link 06/01/2014 - "Long-term toxicity of bevacizumab therapy in neurofibromatosis 2 patients." 03/01/2014 - "Avastin scintigraphy in surveillance of bevacizumab treatment in a patient with neurofibromatosis type 2: a case report." 10/29/2009 - "Hearing improvement after bevacizumab for neurofibromatosis type 2." 10/29/2009 - "Hearing improvement after bevacizumab for neurofibromatosis type 2." 07/23/2009 - "Hearing improvement after bevacizumab in patients with neurofibromatosis type 2."
2.	Neurofibromin 2 (Merlin)IBA 07/20/2010 - "Our studies link Merlin/NF2 to mammalian Hippo signaling and implicate YAP activation as a mediator of pathologies relevant to Neurofibromatosis 2." 08/01/2015 - "We generated SV40-immortalized cell lines derived from wild-type (WT) and neurofibromatosis 2 (merlin) heterozygote (Nf2+/-) mice, both on a commonly used genetic background, C57Bl/6J. " 06/01/2015 - "Missense mutations in the merlin protein occur in approximately 9% of patients with neurofibromatosis type 2 (NF2). " 03/01/2014 - "Neurofibromatosis type 2 (NF2) is a dominantly inherited syndrome caused by mutations of the tumour-suppressor NF2, which encodes the merlin protein. " 02/01/2014 - "NF2/Merlin was first identified through its association with neurofibromatosis type 2 (NF2). "
3.	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 07/23/2009 - "There were 21 adverse events of grade 1 or 2. VEGF blockade with bevacizumab improved hearing in some, but not all, patients with neurofibromatosis type 2 and was associated with a reduction in the volume of most growing vestibular schwannomas." 03/01/2014 - "A patient with neurofibromatosis type 2 (bilateral vestibular schwannomas) was treated with bevacizumab (anti-vascular endothelial growth factor [VEFG] monoclonal antibody). " 07/23/2009 - "Ten consecutive patients with neurofibromatosis type 2 and progressive vestibular schwannomas who were not candidates for standard treatment were treated with bevacizumab, an anti-VEGF monoclonal antibody. " 08/01/2014 - "Therapeutic efficacy has been demonstrated for the anti-VEGF agent bevacizumab in vestibular schwannomas, with tumor size reduction and hearing improvement in patients with neurofibromatosis type 2. The loss of functional Merlin, the protein product of the nf2 gene, results in a decrease in expression of the anti-angiogenic protein SEMA3F through a Rac-1-dependent mechanism, allowing VEGF to promote angiogenesis. " 07/23/2009 - "We determined the expression pattern of vascular endothelial growth factor (VEGF) and three of its receptors, VEGFR-2, neuropilin-1, and neuropilin-2, in paraffin-embedded samples from 21 vestibular schwannomas associated with neurofibromatosis type 2 and from 22 sporadic schwannomas. "
4.	SchwannomatosisIBA 01/01/2013 - "The purpose of this study is to establish the feasibility of WB-MRI at 3T for lesion characterization, with DWI/ADC-mapping and contrast-enhanced sequences, in patients with neurofibromatosis type 2 (NF-2) and schwannomatosis. " 04/01/1997 - "Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study." 07/01/2015 - "It will be especially useful in differentiating schwannomatosis from mosaic Neurofibromatosis type 2 (NF2). " 06/01/2015 - "Schwannomatosis and neurofibromatosis type 2 are similar but different disease. " 06/01/2015 - "But in clinical setting, distinguishing schwannomatosis from neurofibromatosis type 2 is challengeable. "
5.	DNA (Deoxyribonucleic Acid)IBA 10/01/2010 - "The objective of this study was to assess peripheral nerve involvement and DNA mutation of the neurofibromatosis type 2 (NF2) gene (NF2) in a Taiwanese family with classic NF2. " 08/04/1988 - "Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred." 01/01/2002 - "To provide presymptomatic diagnosis for children of sporadic neurofibromatosis 2 patients in whom no NF2-mutations were found by screening their blood-DNA. " 02/01/2001 - "High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH." 07/01/1995 - "Presymptomatic DNA and MRI diagnosis of neurofibromatosis 2 with mild clinical course in an extended pedigree."
6.	everolimus FDA Link 04/01/2015 - "Phase II study of mTORC1 inhibition by everolimus in neurofibromatosis type 2 patients with growing vestibular schwannomas." 01/01/2014 - "We conducted a single-institution, prospective, 2-stage, open-label phase II study to estimate the response rate to everolimus in neurofibromatosis type 2 (NF2) patients with progressive vestibular schwannoma (VS). " 01/01/2014 - "Phase II study of everolimus in children and adults with neurofibromatosis type 2 and progressive vestibular schwannomas."
7.	Retinaldehyde (Retinal)IBA 10/01/2008 - "Correlation of nonsense and frameshift mutations with severity of retinal abnormalities in neurofibromatosis 2." 09/01/2002 - "Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis 2." 01/01/2002 - "Bilateral retinal involvement as a presenting sign of neurofibromatosis 2." 04/01/1999 - "Germ-line NF2 mutations and disease severity in neurofibromatosis type 2 patients with retinal abnormalities." 01/01/1995 - "Retinal changes associated with neurofibromatosis 2."
8.	Cyclin-Dependent Kinase Inhibitor p16IBA 03/01/2011 - "In the present study, we established six mesothelioma cell lines possessing two allele deletions of the p16(INK4A) gene and one allele deletion of the neurofibromatosis type 2 gene, MM16, MM21, MM26, MM35, MM46 and MM56, from pleural effusion fluids or surgically resected tumors of Japanese patients. " 02/01/2014 - "Indeed, it is known that several genes are altered or mutated in MM, among those are p16(INK4A), p14(ARF), and neurofibromatosis type II. Furthermore, TP53 has been reported to be mutated in the majority of the cancers; however, in MM, it is very uncommon mutations in this gene. " 03/01/2008 - "Malignant mesothelioma presents with the frequent inactivation of tumor suppressor genes of p16(INK4a)/p14(ARF) on chromosome 9p21 and neurofibromatosis type 2 (NF2) on chromosome 22q12, with the latter being responsible for the NF2 familial cancer syndrome. " 07/01/2013 - "Molecular genetic analysis has revealed several key genetic alterations, which are responsible for the development and progression of MM. The cyclin-dependent kinase inhibitor 2A/alternative reading frame (CDKN2A/ARF), neurofibromatosis type 2 (NF2) and BRCA1-associated protein-1 (BAP1) genes are the most frequently mutated tumor suppressor genes detected in MM cells; the alterations of the latter two are relatively characteristic of MM. Merlin, which is encoded by NF2, regulates multiple cell signaling cascades including the Hippo and mammalian target of rapamycin pathways, which regulate cell proliferation and growth. " 01/01/2010 - "MM shows frequent genetic inactivation of tumor suppressor genes of p16(INK4a)/p14(ARF) and neurofibromatosis type 2 (NF2) which encodes Merlin, and epigenetic inactivation of RASSF1A. "
9.	Genetic Markers (Genetic Marker)IBA 11/01/1996 - "Presymptomatic diagnosis of neurofibromatosis 2 using linked genetic markers, neuroimaging, and ocular examinations." 08/04/1988 - "The presence of such lesions is probably a prodromic feature of neurofibromatosis 2. Simultaneous analysis of D22S1 and IGLV DNA markers for coinheritance with neurofibromatosis 2 indicates that the locus for the disease is near the center of the long arm of chromosome 22 (22q11.1----22q13.1). " 11/01/1990 - "To determine whether these tumors arise from a single cell or from multiple cells, we used molecular genetic techniques to study X chromosome inactivation in meningiomas and schwannomas isolated from females including one who had neurofibromatosis type 2. The tumors were also screened for loss of heterozygosity at several loci on chromosome 22 using polymorphic DNA markers. " 09/01/1987 - "Three groups of polymorphic DNA markers were used: (1) markers for chromosome 22, because of possible allelic genetic heterogeneity between VRNF and bilateral acoustic neurofibromatosis; (2) markers near the centromere of chromosome 4, since there was preliminary evidence for linkage between the VRNF gene and Gc; and (3) oncogenes and growth factors as possible candidate genes for VRNF. "
10.	ParaffinIBA 04/01/2001 - "In this study, we have evaluated neurofibromatosis type 2 (NF2) gene alterations in eight PNTs using archival formaldehyde-fixed, paraffin-embedded tissue. " 01/01/1995 - "Formalin-fixed paraffin sections of 55 consecutive bilateral vestibular schwannomas in 46 patients with neurofibromatosis 2 (NF2), and 50 patients with unilateral vestibular schwannomas were investigated immunohistochemically with the monoclonal antibody MIB 1 directed against recombinant parts of Ki-67 antigen. " 07/23/2009 - "We determined the expression pattern of vascular endothelial growth factor (VEGF) and three of its receptors, VEGFR-2, neuropilin-1, and neuropilin-2, in paraffin-embedded samples from 21 vestibular schwannomas associated with neurofibromatosis type 2 and from 22 sporadic schwannomas. "

Therapies and Procedures

1.	Auditory Brain Stem Implants (Auditory Brainstem Implants) 04/01/2015 - "Some studies show that neurofibromatosis Type 2 (NF2) patients fit with auditory brainstem implants (ABIs) fail to achieve speech perception abilities similar to ABI recipients without NF2. " 01/01/2009 - "This study reviews the long-term results of auditory brainstem implant (ABI) in neurofibromatosis type 2 (NF2) patients. " 07/01/2005 - "Previous studies have considered only patients with neurofibromatosis type 2 (NF2) older than 12 years as candidates for an auditory brainstem implant (ABI). " 09/01/2014 - "Auditory brainstem implants in neurofibromatosis Type 2." 06/01/2014 - "MRI without magnet removal in neurofibromatosis type 2 patients with cochlear and auditory brainstem implants."
2.	Radiotherapy 09/01/2007 - "There were five neurofibromatosis type 2 patients treated, two of whom had useful hearing before radiotherapy. " 12/01/2005 - "In addition to the WHO classification, the following potential prognostic factors were analyzed: age, sex, extent of resection, history of radiotherapy, diagnosis of neurofibromatosis Type 2 (NF2) or other inherited syndromes, and the presence of a comorbidity. " 12/01/2002 - "Our findings suggest that radiotherapy might not be the optimal first-line treatment for acoustic neuromas in patients with type 2 neurofibromatosis." 03/01/2014 - "To evaluate the long-term outcome of patients with vestibular schwannoma (VS) and neurofibromatosis type 2 (NF2) treated with fractionated stereotactic radiotherapy (FSRT) or stereotactic radiosurgery (SRS). " 03/01/2014 - "Radiotherapy in patients with vestibular schwannoma and neurofibromatosis type 2: clinical results and review of the literature."
3.	Cochlear Implantation 10/01/2011 - "The aim of this study was to determine whether patients with neurofibromatosis Type 2 (NF2) who have intact ipsilateral cochlear nerves can have open-set speech discrimination following cochlear implantation. " 12/01/2013 - "English consensus protocol evaluating candidacy for auditory brainstem and cochlear implantation in neurofibromatosis type 2." 07/01/2013 - " Few cases of cochlear implantation (CI) in neurofibromatosis type 2 (NF2) patients had been reported in the literature. " 07/01/2013 - "Retrolabyrinthine approach for cochlear nerve preservation in neurofibromatosis type 2 and simultaneous cochlear implantation." 07/01/2012 - "Cochlear implantation in patients with neurofibromatosis type 2: variables affecting auditory performance."
4.	Heterologous Transplantation (Xenotransplantation) 01/01/2006 - "Gene therapy for schwannomas was evaluated in two mouse models of neurofibromatosis type 2 (NF2): (1) a transgenic model in which mice express a dominant mutant form of merlin and spontaneously develop schwannomas, and (2) a xenograft model in which human schwannoma tissue is implanted subcutaneously into immune- compromised mice. " 09/01/2008 - "In this preliminary study, the ErbB inhibitors trastuzumab and erlotinib decreased growth of VS xenografts in nude mice, raising the possibility of using ErbB inhibitors in the management of patients with schwannomas, particularly those with neurofibromatosis Type 2."
5.	Cochlear Implants (Cochlear Implant) 07/01/2012 - "To investigate cochlear implant performance outcomes among patients with Neurofibromatosis type 2 (NF2). " 05/01/2012 - "The primary aim is to demonstrate that cochlear implants can function in the presence of retrocochlear pathology, even after stereotactic radiosurgery (SRS), and hence to introduce this as a management option in selected patients with retrocochlear pathology, such as Neurofibromatosis type II (NFII) patients. " 10/01/2011 - "Auditory rehabilitation of patients with neurofibromatosis Type 2 by using cochlear implants." 07/01/2011 - "Cochlear implant in type 2 neurofibromatosis: an option for better hearing rehabilitation." 05/01/2011 - "The Nucleus auditory brain stem implant (ABI) has been used in the hearing rehabilitation of totally deaf individuals for whom a cochlear implant is not an option such as in the case of neurofibromatosis type 2 (NF2). "