Disease Profile

Schwannoma

Prevalence ?
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

46,215 - 5,135

Europe Estimated

Age of Onset

Adult

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ICD-10

-

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other Names (AKA)

Neurilemoma; Neurilemmoma; Neurolemmoma;

Summary

A schwannoma is a tumor of the peripheral nervous system or nerve root. A schwannoma develops from cells called Schwann cells, a type of cell that wraps itself around peripheral nerves and provides protection and support. Schwannomas are almost always benign (not cancerous), but rarely, may become cancerous (a malignant schwannoma).[1][2] Symptoms of a schwannoma may be vague and will vary depending on its location and size, but may include a lump or bump that can be seen or felt, pain, muscle weakness, tingling, numbness, hearing problems, and/or facial paralysis.[1][2][3] Sometimes schwannomas do not cause any symptoms.[1]

Schwannomas usually develop in otherwise healthy people for unknown reasons.[2] In some cases, a schwannoma is caused by a genetic disorder such as neurofibromatosis 2 (NF2), schwannomatosis, or Carney complex.[1][2][4] People with these genetic disorders usually have more than one schwannoma.[1][2]

Schwannomas may be diagnosed using imaging studies. A biopsy may confirm the diagnosis.[1][2] Treatment of benign schwannomas may involve surgery to remove the tumor.[2] Treatment of malignant schwannomas may include both surgery and radiation therapy.[5]

Symptoms

Schwannomas may grow slowly and may be present for months or years without causing symptoms.[2] Therefore, some people may never experience any symptoms.[1] Others may experience radiating pain, muscle weakness, tingling, a "pins and needles" sensation, or numbness, but symptoms vary depending on the peripheral nerve which is affected.[1] The following are examples of symptoms that may occur due to a schwannoma in a specific nerve or area of the body:

  • Vestibular nerve (the nerve connecting the ear and brain) hearing loss, dizziness, balance problems, and/or ringing or buzzing in the ear.[6]
  • Facial nerve facial paralysis, swallowing problems, difficulty moving the eye, facial pain, and/or loss of sense of taste.[3]
  • Spinal nerve root symptoms similar to a herniated disk such as radiating arm or leg pain, numbness, tingling, and muscle weakness.[2][7]
  • Arm or leg nerve localized pain, "pins and needles" sensation, carpal tunnel syndrome (if on a wrist nerve), and tarsal tunnel syndrome (if on an ankle nerve).[2]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal temporal bone morphology
0009911
Abnormality of peripheral nervous system electrophysiology
0030177
Peripheral Schwannoma
0009593
Scleral schwannoma
0100011
Vestibular Schwannoma
0009588
30%-79% of people have these symptoms
Allodynia
0012533
Facial palsy
Bell's palsy
0010628
Hearing abnormality
Abnormal hearing
0000364
Vertigo
Dizzy spell
0002321
5%-29% of people have these symptoms
Abnormal esophagus morphology
Abnormality of esophagus structure
0002031
Abnormal parotid gland morphology
0000197
Abnormality of fibula morphology
Abnormality of the calf bone
0002991
Abnormality of the adrenal glands
Adrenal abnormalities
0000834
Abnormality of the breast
0000769
Abnormality of the larynx
0001600
Abnormality of the liver
Abnormal liver
Liver abnormality

[ more ]

0001392
Abnormality of the twelfth cranial nerve
0010826
Acute episodes of neuropathic symptoms
0003489
Intestinal polyposis
0200008
Morphological central nervous system abnormality
0002011
Nasal polyposis
0100582

Cause

In most cases, it is not known why a schwannoma develops. In some cases, a schwannoma develops in association with an underlying genetic disorder such as neurofibromatosis 2 (NF2), schwannomatosis, or Carney complex. These disorders may cause multiple tumors to develop.[1][2][6] When a schwannoma is a feature of a genetic disorder, it is caused by a genetic mutation that causes an increased risk for tumor growth.[4][8]

Schwannomas develop from the Schwann cells which normally form a protective lining around most of the nerves of the peripheral nervous system and also the nerve root. The peripheral nervous system carries signals from the brain and spinal cord (central nervous system) to the muscles and tissues of the body. The nerve root is the first part of nerve leaving the spinal cord and then becomes a peripheral nerve. Schwann cells provide support by wrapping around nerves and nerve roots but also produce the fatty insulation called myelin that surrounds nerves and helps nerve signals travel fast. When a schwannoma grows large enough, it may begin compressing or putting a squeezing pressure on the nerve. It also damages the myelin in that area of the nerve. Together the compression of the nerve and myelin damage cause the symptoms related to schwannomas.[2][6]

Diagnosis

A schwannoma may be difficult to diagnosis at first because, depending on its location, the symptoms it causes may be similar to the symptoms caused by other health problems. The following tests may be used to rule out other causes of the symptoms and confirm the diagnosis:[1][2][10]

  • X-ray
  • Ultrasound
  • CT scan
  • Magnetic resonance imaging (MRI) MRI can help determine if a tumor is on the outside of a nerve or part of a nerve and if it involves other nearby structures
  • Biopsy of the tumor to confirm the diagnosis a biopsy involves removing a small sample of the schwannoma to be examined under the microscope

In some cases, a schwannoma is discovered incidentally (by chance) when a person has imaging studies for another reason.[1]

    Treatment

    Treatment for a schwannoma may depend on the location of the tumor, severity of symptoms, and whether the tumor is benign or malignant (cancerous).[6] A benign schwannoma causing symptoms or affecting a person's appearance is typically treated with surgery to remove as much as the tumor as possible, while keeping the affected nerve intact. It is often possible to remove the entire tumor. Surgery usually quickly relieves the related symptoms, although if muscle weakness was present before surgery, the muscle may not return to full strength.[2][6][10]

    Treatment for a malignant schwannoma may involve both surgery and radiation therapy.[2][6][10]

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Social Networking Websites

        Organizations Providing General Support

          Learn More

          These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

          In-Depth Information

          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Schwannoma. Click on the link to view a sample search on this topic.

            References

            1. Gilchrist JM, Donahue JE. Peripheral nerve tumors. UpToDate. Waltham, MA: UpToDate; July 3, 2017; https://www.uptodate.com/contents/peripheral-nerve-tumors.
            2. Dickey ID. Neurilemmoma. Medscape Reference. August 18, 2016; https://emedicine.medscape.com/article/1256405-overview#a0112.
            3. Schwannoma. American Brain Tumor Association (ABTA). https://www.abta.org/brain-tumor-information/types-of-tumors/schwannoma.html. Accessed 12/5/2017.
            4. Neurofibromatosis type 2. Genetics Home Reference (GHR). December, 2013; https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-2.
            5. Malignant peripheral nerve sheath tumors. Mayo Clinic. October 18, 2017; https://www.mayoclinic.org/diseases-conditions/malignant-peripheral-nerve-sheath-tumors/basics/definition/con-20035841.
            6. Schwannoma. Cancer Research UK. October 5, 2017; https://www.cancerresearchuk.org/about-cancer/other-conditions/schwannoma/about?_ga=2.229557532.1840042620.1512496013-1131400962.1478550768.
            7. Herniated disk. Mayo Clinic. November 23, 2016; https://www.mayoclinic.org/diseases-conditions/herniated-disk/symptoms-causes/syc-20354095.
            8. Yohay K, Bergner A. Schwannomatosis. UpToDate. Waltham, MA: UpToDate; August 28, 2017; https://www.uptodate.com/contents/schwannomatosis.
            9. Gonzalvo A, Fowler A, Cook RJ, Little NS, Wheeler H, McDonald KL, Biggs MT. Schwannomatosis, sporadic schwannomatosis, and familial schwannomatosis: a surgical series with long-term follow-up. Clinical article.. Journal of Neurosurgery. 2011; 113(3):752-765. https://www.ncbi.nlm.nih.gov/pubmed/20932094.
            10. Schwannoma (Neurilemoma) in Children. Boston Children's Hospital. https://www.childrenshospital.org/az/Site1069/mainpageS1069P0.html. Accessed 11/7/2017.
            11. Antinheimo J, Sankila R, Carpen O, Pukkala E, Sainio M, Jaaskelainen J. Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas. Neurology. 2000; 54(1):71-76. https://www.ncbi.nlm.nih.gov/pubmed/10636128.