Neurofibromatosis type 2

Common Name(s)

Neurofibromatosis type 2, Neurofibromatosis 2 (NF2), Bilateral Acoustic Neurofibromatosis, BANF Acoustic Neurinoma

Neurofibromatosis Type 2 (NF2) is a genetic condition that causes the development of non-cancerous (benign) tumors along the nerves in the body. NF2 is one type of neurofibromatosis, which is a group of genetic conditions that cause abnormal cell growth in nerve tissues throughout the body. Tumors in NF2 usually develop on the nerves that send messages from the inner ears to the brain (vestibular schwannomas or acoustic neuromas), but tumors can also develop in other nerves in the body. Symptoms of inner ear tumors in NF2 usually include trouble with balance, dizziness, headache, facial weakness, numbness, pain, ringing in ears (tinnitus), and hearing loss. Other symptoms may develop if tumors occur in other areas of the body and can include abnormal vision, weakness in the arms or legs, and fluid buildup in the brain.

NF2 is caused by a change (mutation) in the NF2 gene. This gene acts as a tumor suppressor for nerve cells, which means it helps control nerve cell growth and division. A mutation in the NF2 gene leads to uncontrolled nerve cell growth, which causes tumor development in nerve tissue throughout the body. NF2 is inherited in an autosomal dominant way, which means a mutation in one of two copies of the gene a person has is enough to cause the condition.

There are clinical criteria that doctors use to diagnose NF2. The condition is usually diagnosed by a doctor who is familiar with genetic conditions (geneticist). Genetic testing is used to confirm the clinical diagnosis. Although NF2 does not have a cure, management of many of the symptoms is possible. Treatment usually involves surgery to remove tumors in the ear as well as support for hearing loss. If your child has been diagnosed with NF2, talk with their doctor to determine a treatment plan. More information and support is available through NF support groups.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Neurofibromatosis type 2" for support, advocacy or research.

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Children's Tumor Foundation, Inc.

Funds research, patient support and public awareness of the neurofibromatoses (NF1, NF2, and Schwannomatosis) - genetic disorders that cause random tumor growth throughout the body.

Last Updated: 14 Jan 2013

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Littlest Tumor Foundation

The Littlest Tumor Foundation is a nonprofit organization dedicated to finding preventative therapies and threatment for tumor growth in children and providing wellness scholarships to families dealing with Neurofibromatosis (NF). Our mission is to increase understanding of NF, to empower families dealing with the disorder, and to continue research of preventative therapies.

Last Updated: 4 Feb 2013

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Neurofibromatosis Mid-Atlantic

Neurofibromatosis Mid-Atlantic is a non profit organization dedicated to helping people with Neurofibromatosis and their loved ones make sense of the complex medical disorder. We provide reliable, complete, and up to date information about Neurofibromatosis. We provide education, support, and community. There is no charge for our services.

Last Updated: 22 Dec 2012

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Neurofibromatosis, Inc., Northeast

Our mission is to find treatments and the cure for neurofibromatosis by promoting scientific research, creating awareness, and providing hope and support to those who are affected by NF.

Last Updated: 5 May 2014

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Neurofibromatosis type 2" for support, advocacy or research.

Logo
Children's Tumor Foundation, Inc.

Funds research, patient support and public awareness of the neurofibromatoses (NF1, NF2, and Schwannomatosis) - genetic disorders that cause random tumor growth throughout the body.

https://www.ctf.org

Last Updated: 14 Jan 2013

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Littlest Tumor Foundation

The Littlest Tumor Foundation is a nonprofit organization dedicated to finding preventative therapies and threatment for tumor growth in children and providing wellness scholarships to families dealing with Neurofibromatosis (NF). Our mission is to increase understanding of NF, to empower families dealing with the disorder, and to continue research of preventative therapies.

http://www.littlesttumor.org

Last Updated: 4 Feb 2013

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Neurofibromatosis Mid-Atlantic

Neurofibromatosis Mid-Atlantic is a non profit organization dedicated to helping people with Neurofibromatosis and their loved ones make sense of the complex medical disorder. We provide reliable, complete, and up to date information about Neurofibromatosis. We provide education, support, and community. There is no charge for our services.

http://www.nfmidatlantic.org

Last Updated: 22 Dec 2012

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Neurofibromatosis, Inc., Northeast

Our mission is to find treatments and the cure for neurofibromatosis by promoting scientific research, creating awareness, and providing hope and support to those who are affected by NF.

http://www.nfincne.org

Last Updated: 5 May 2014

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Neurofibromatosis type 2" returned 103 free, full-text research articles on human participants. First 3 results:

Cochlear implant in a patient with neurofibromatosis type 2 undergoing radiotherapy.
 

Author(s): Patrícia Santos Pimentel, Danielle Seabra Ramos, Lílian Muniz, Mariana de Carvalho Leal, Silvio da Silva Caldas Neto

Journal: Braz J Otorhinolaryngol. ;82(2):242-3.

 

Last Updated: 22 Mar 2016

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Primary meningeal melanoma with cerebrospinal fluid dissemination mimicking neurofibromatosis type 2.
 

Author(s): Marcos Rosa Júnior, Luciene Lage da Motta, Fabrizio Scardino

Journal: Arq Neuropsiquiatr. 2015 Jul;73(7):636-7.

 

Last Updated: 23 Jul 2015

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Multiple synchronous sites of origin of vestibular schwannomas in neurofibromatosis Type 2.
 

Author(s): Stavros M Stivaros, Anat O Stemmer-Rachamimov, Robert Alston, Scott R Plotkin, Joseph B Nadol, Alicia Quesnel, Jennifer O'Malley, Gillian A Whitfield, Martin G McCabe, Simon R Freeman, Simon K Lloyd, Neville B Wright, John-Paul Kilday, Ian D Kamaly-Asl, Samantha J Mills, Scott A Rutherford, Andrew T King, D Gareth Evans

Journal: J. Med. Genet.. 2015 Aug;52(8):557-62.

 

Neurofibromatosis Type 2 (NF2) is a dominantly inherited tumour syndrome with a phenotype which includes bilateral vestibular (eighth cranial nerve) schwannomas. Conventional thinking suggests that these tumours originate at a single point along the superior division of the eighth nerve.

Last Updated: 25 Jul 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Neurofibromatosis type 2" returned 13 free, full-text review articles on human participants. First 3 results:

Targeted therapy for hereditary cancer syndromes: neurofibromatosis type 1, neurofibromatosis type 2, and Gorlin syndrome.
 

Author(s): Rishi Agarwal, Sarah Liebe, Michelle L Turski, Smruti J Vidwans, Filip Janku, Ignacio Garrido-Laguna, Javier Munoz, Richard Schwab, Jordi Rodon, Razelle Kurzrock, Vivek Subbiah,

Journal: Discov Med. 2014 Dec;18(101):323-30.

 

Hereditary cancer syndromes are well known in the oncology community, typically affecting children, adolescents, and young adults and thereby resulting in great cumulative morbidity and mortality. These syndromes often lag behind their de novo counterparts in the development of approved ...

Last Updated: 31 Dec 2014

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Gastrinoma and neurofibromatosis type 2: the first case report and review of the literature.
 

Author(s): Sara Massironi, Alessandra Zilli, Roberta Elisa Rossi, Federica Cavalcoli, Dario Conte, Maddalena Peracchi

Journal:

 

Gastroenteropancreatic neuroendocrine tumors have occasionally been described in association with neurofibromatosis type 1, whereas an association with neurofibromatosis type 2 has never been reported.

Last Updated: 5 Jul 2014

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[Neurofibromatosis type 2 and its head and neck manifestations: literature review and population study in the Community of Cantabria and the province of Las Palmas].
 

Author(s): Gloria Guerra-Jiménez, Pilar Camargo Camacho, Ángel Ramos-Macías, Carmelo Morales Angulo

Journal: Acta Otorrinolaringol Esp. ;65(3):148-56.

 

Neurofibromatosis type 2 (NF2) is an infrequent autosomal dominant disease characterised by the appearance of viii nerve schwannomas, meningiomas and ocular abnormalities. Incidence of 1:25,000 and prevalence above 1:80,000 are estimated in general. The objectives of our study were ...

Last Updated: 9 May 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Axitinib in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas
 

Status: Recruiting

Condition Summary: Neurofibromatosis Type 2; Vestibular Schwannomas

 

Last Updated: 13 Apr 2016

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Study of RAD001 for Treatment of NF2-related Vestibular Schwannoma
 

Status: Recruiting

Condition Summary: Neurofibromatosis Type 2; Neuroma, Acoustic

 

Last Updated: 23 Aug 2016

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Phase 2 Study of Bevacizumab in Children and Young Adults With NF 2 and Progressive Vestibular Schwannomas
 

Status: Recruiting

Condition Summary: Neurofibromatosis Type 2; Progressive Vestibular Schwannomas

 

Last Updated: 1 Sep 2016

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