Schwannomatosis

Common Name(s)

Schwannomatosis

Schwannomatosis is a rare genetic condition that causes the development of non-cancerous (benign) tumors along nerves in the body. Schwannomatosis is one type of neurofibromatosis (NF), which is a group of genetic conditions that cause abnormal cell growth in nerve tissues throughout the body. This condition causes non-cancerous (benign) tumors to develop in special cells that surround nerves (Schwann cells). These tumors, called schwannomas, develop around nerves that come from the brain (cranial), are in the spine (spinal), and that connect the brain and spine (peripheral). Unlike another form of NF, known as neurofibromatosis type 2 (NF2), schwannomatosis does not cause tumors to form in the nerves between the ear and brain (vestibular schwannomas). This means people with schwannomatosis typically do not have hearing loss. Symptoms of schwannomatosis depend on the location of the tumors, but can include chronic pain, numbness, tingling, and weakness.

The genetics of schwannomatosis are not well understood. Some cases of the condition are believed to be caused by a change (mutation) in the SMARCB1 gene. The diagnosis of schwannomatosis is considered in people who have schwannomas in any area of the body that does not include the inner ear. Genetic testing may be used to confirm the diagnosis. There is no cure for schwannomatosis, but surgery to remove schwannomas may be helpful if a person has significant symptoms. If your child has been diagnosed with schwannomatosis, talk to their doctor about all treatment options. Additional information and support are available through schwannomatosis support groups.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Schwannomatosis" 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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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 "Schwannomatosis" 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.

https://www.ctf.org

Last Updated: 14 Jan 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 "Schwannomatosis" returned 30 free, full-text research articles on human participants. First 3 results:

The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis.
 

Author(s): Jaishri O Blakeley, Annette Bakker, Anne Barker, Wade Clapp, Rosalie Ferner, Michael J Fisher, Marco Giovannini, David H Gutmann, Matthias A Karajannis, Joseph L Kissil, Eric Legius, Alison C Lloyd, Roger J Packer, Vijaya Ramesh, Vincent M Riccardi, David A Stevenson, Nicole J Ullrich, Meena Upadhyaya, Anat Stemmer-Rachamimov

Journal: Am. J. Med. Genet. A. 2017 Jun;173(6):1714-1721.

 

The Annual Children's Tumor Foundation International Neurofibromatosis Meeting is the premier venue for connecting discovery, translational and clinical scientists who are focused on neurofibromatosis types 1 and 2 (NF1 and NF2) and schwannomatosis (SWN). The meeting also features ...

Last Updated: 31 Dec 1969

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Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis.
 

Author(s): Miriam J Smith, Naomi L Bowers, Michael Bulman, Carolyn Gokhale, Andrew J Wallace, Andrew T King, Simon K L Lloyd, Scott A Rutherford, Charlotte L Hammerbeck-Ward, Simon R Freeman, D Gareth Evans

Journal: Neurology. 2017 Jan;88(1):87-92.

 

To determine the specificity of the current clinical diagnostic criteria for neurofibromatosis type 2 (NF2) relative to the requirement for unilateral vestibular schwannoma (VS) and at least 2 other NF2-related tumors.

Last Updated: 31 Dec 1969

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Immortalized Human Schwann Cell Lines Derived From Tumors of Schwannomatosis Patients.
 

Author(s): Kimberly Laskie Ostrow, Katelyn Donaldson, Jaishri Blakeley, Allan Belzberg, Ahmet Hoke

Journal:

 

Schwannomatosis, a rare form of neurofibromatosis, is characterized predominantly by multiple, often painful, schwannomas throughout the peripheral nervous system. The current standard of care for schwannomatosis is surgical resection. A major obstacle to schwannomatosis research ...

Last Updated: 31 Dec 1969

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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 "Schwannomatosis" returned 5 free, full-text review articles on human participants. First 3 results:

The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.
 

Author(s): Hildegard Kehrer-Sawatzki, Said Farschtschi, Victor-Felix Mautner, David N Cooper

Journal: Hum. Genet.. 2017 Feb;136(2):129-148.

 

Schwannomatosis is characterized by the predisposition to develop multiple schwannomas and, less commonly, meningiomas. Despite the clinical overlap with neurofibromatosis type 2 (NF2), schwannomatosis is not caused by germline NF2 gene mutations. Instead, germline mutations of either ...

Last Updated: 31 Dec 1969

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Current whole-body MRI applications in the neurofibromatoses: NF1, NF2, and schwannomatosis.
 

Author(s): Shivani Ahlawat, Laura M Fayad, Muhammad Shayan Khan, Miriam A Bredella, Gordon J Harris, D Gareth Evans, Said Farschtschi, Michael A Jacobs, Avneesh Chhabra, Johannes M Salamon, Ralph Wenzel, Victor F Mautner, Eva Dombi, Wenli Cai, Scott R Plotkin, Jaishri O Blakeley, ,

Journal: Neurology. 2016 Aug;87(7 Suppl 1):S31-9.

 

The Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration Whole-Body MRI (WB-MRI) Working Group reviewed the existing literature on WB-MRI, an emerging technology for assessing disease in patients with neurofibromatosis type 1 (NF1), neurofibromatosis ...

Last Updated: 31 Dec 1969

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Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis.
 

Author(s): Jaishri O Blakeley, Scott R Plotkin

Journal: Neuro-oncology. 2016 05;18(5):624-38.

 

Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN) are tumor-suppressor syndromes. Each syndrome is an orphan disease; however, the tumors that arise within them represent the most common tumors of the nervous system worldwide. Systematic investigation ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Neurofibromatosis (NF) Registry Portal
 

Status: Recruiting

Condition Summary: Neurofibromatosis 1; Neurofibromatosis 2; Schwannomatosis

 

Last Updated: 30 Dec 2016

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