Diagnosis of NF2

The early symptoms of NF2 are symptoms of dysfunction of the acoustic (hearing) nerve, which carries information about sound to the brain, and the vestibular nerve, which carries balance information to the brain. Consequently, hearing loss, ringing in the ears (called tinnitus) and problems with balance, beginning in the teens or early twenties, are generally the first symptoms of NF2.

Although tumors on the eighth cranial nerve are most common, persons with NF2 can develop tumors on other nerves as well. These tumors are called "schwannomas" because they arise from "Schwann cells." Schwann cells support and protect nerve cells and provide nerves with the insulation they need to conduct information. The symptoms of a schwannoma will depend on their location. Those that arise on cranial nerves (like the eighth cranial nerve tumors) affect the head and neck unless they grow large enough to push on the base of the brain (called the brainstem) and affect the body also. Those which grow on the nerves as they exit the spinal cord may cause numbness of a part of the body; some tumors may grow large enough to press on the spinal cord and cause weakness and numbness in the legs. Those that grow in the bundles of nerves gathered in the armpits and groin area may cause weakness in one arm or leg. Schwannomas may even grow in tiny nerves in the skin where one can see them. These peripheral schwannomas rarely cause neurological symptoms but they may rub on clothing or be cosmetically disfiguring.

Other symptoms of NF2 may include facial weakness, headache, change in vision, and a lump or swelling under the skin caused by the development of a neurofibroma. In a family member at risk for NF2, a positive diagnosis is suspect if mild signs of NF are found elsewhere, such as one or two café-au-lait spots or a small lump under the scalp or skin.

How do I know I have NF2?

If you think you or a loved one may have NF2, you should consult a knowledgeable physician. Individuals with the following clinical features have confirmed (definite) NF2:

Bilateral vestibular schwannomas (VS)

or

Family history of NF2 (first degree family relative)

plus

    1. Unilateral vestibular schwannoma and individual is less than 30 years old
    2. Any two of the following: meningioma, glioma, schwannoma, juvenile posterior subcapsular lenticular opacities/juvenile cortical cataract

Individuals with the following clinical features should be evaluated for NF2 (presumptive or probable NF2):

  • Unilateral vestibular schwannoma, individual is less than 30 years old, plus at least one of the following: meningioma, glioma, schwannoma, juvenile posterior subcapsular lenticular opacities/juvenile cortical cataract
  • Multiple meningiomas (two or more), plus unilateral vestibular schwannoma, and individual is less than 30 years old, or one of the following: glioma, schwannoma, juvenile posterior subcapsular lenticular opacities/juvenile cortical cataract

 

Genetic Testing for NF2

Massachusetts General Hospital, Boston, MA
DNA diagnostics lab at MGH, phone (617 726-5721) or log in to the MGH website.

Medical Genomics Laboratory at University of Alabama, Birmingham
Phone (205) 934-1520, or log in to the MGL website.

The National Genetics Reference Laboratory, Manchester, UK
Dr. Andrew Wallace - phone: 011-44-161-276-6129, or email: Andrew.Wallace@cmmc.nhs.uk

The Laboratory for Tumor Biology, Hospital Eppendorf, Hamburg, Germany
Dr. Victor Mautner - phone: 49-40-42803-4068, or email: v.mautner@uke.uni-hamburg.de

Contact Us

Children's Tumor Foundation
120 Wall Street, 16th Floor
New York, NY 10005-3904

Phone: 212-344-6633

info@ctf.org