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Neurofibromatosis Type 2

What is Neurofibromatosis Type 2?

Neurofibromatosis type 2 or NF2 is a genetic disorder characterized by the development of benign tumors in the nervous system. Depending on the type of cell that originates the tumor, these tumors are called schwannomas, meningiomas or ependymomas.

NF2 is autosomal dominant, meaning that only one of the two copies of the NF2 gene needs to be mutated for the disease to be develop.

Individuals with NF2 could inherit the defective gene from their parents or it could be due to the appearance of a new mutation, being the latter 50-60 % of the cases. New mutations occur randomly, for no known reason.

NF2 mutations are also found in a variety of malignant cancers including mesothelioma, kidney cancer, prostate, breast, hepatic, colorectal and melanoma.

 

Synonyms

  • Neurofibromatosis type 2
  • Central neurofibromatosis
  • Bilateral acoustic neurofibromatosis

Neurofibromatosis type 2 or NF2 is a genetic disorder characterized by the development of benign tumors in the nervous system. Depending on the type of cell that originates the tumor, these tumors are called schwannomas, meningiomas or ependymomas.

NF2 is autosomal dominant, meaning that only one of the two copies of the NF2 gene needs to be mutated for the disease to be develop.

Individuals with NF2 could inherit the defective gene from their parents or it could be due to the appearance of a new mutation, being the latter 50-60 % of the cases. New mutations occur randomly, for no known reason.

NF2 mutations are also found in a variety of malignant cancers including mesothelioma, kidney cancer, prostate, breast, hepatic, colorectal and melanoma.

Acknowledgement of Neurofibromatosis Type 2 has not been added yet.

It is a rare disorder affecting about 1 in 25,000 people in the world.

Name Abbreviation
Neurofibromatosis type 2 NF2
Central neurofibromatosis NF2
Bilateral acoustic neurofibromatosis NF2

NF2 is caused by mutations in the NF2 gene, which serves as the blueprint for the production of a protein called Merlin. NF2 is what is called a tumor suppressor gene, Merlin function consists in restraining cell growth and division. When the protein is absent or altered, cells divide in an uncontrolled manner leading to the formation of tumors.

The most characteristic sign of NF2 is the development of vestibular schwannomas: the uncontrolled proliferation of the support cells (Schwann cells) that surround the nerve cells forming the vestibular nerves.

These tumors, though benign in nature can compress the vestibular nerve and compromise its function leading to hearing loss and imbalance.

Apart from the vestibular nerves, other nerves and structures in the central nervous system can be affected causing facial weakness, vision loss, sensory or motor deficits and seizures among other symptoms.

When an NF2 diagnosis is suspected because of the existence of neurological symptoms, the presence of the tumors is confirmed by performing MRI (magnetic resonance imaging).

The presence of bilateral vestibular schwannomas or the combination of two other tumors associated with NF2 is enough to perform a diagnosis. Although less commonly, it can also be diagnosed by genetic testing for mutations in NF2.

At present, the treatments available are the surgical removal of the tumors and radiotherapy. New treatments are currently under research including anti-VEGF therapy (Bevacizumab).

The prognosis of NF2 varies with the onset of the disease, being an early appearance of the tumors a poor prognosis factor. The life quality of NF2 patients is affected due to the hearing loss and the other symptoms discussed above. There is an augmented morbidity associated with NF2, but the life expectancy of the patients is increasing due to the new treatments available and the existence of specialized centres.

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Neurofibromatosis type 2 (NF2) Neurofibromatosis type 2 or NF2 is a genetic disorder characterized by the development of benign tumors in the nervous system. Depending on the type of cell that originates the tumor, these tumors are called schwannomas, meningiomas or ependymomas. 06/09/2017
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CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

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