Neurofibromatosis 2 (Neurofibromatosis Type II)

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)


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. bevacizumabFDA Link
2. Neurofibromin 2 (Merlin)IBA
3. Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA
4. SchwannomatosisIBA
5. DNA (Deoxyribonucleic Acid)IBA
6. everolimusFDA Link
7. Retinaldehyde (Retinal)IBA
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
10. ParaffinIBA

Therapies and Procedures

1. Auditory Brain Stem Implants (Auditory Brainstem Implants)
2. Radiotherapy
3. Cochlear Implantation
4. Heterologous Transplantation (Xenotransplantation)
5. Cochlear Implants (Cochlear Implant)