Neurofibromatosis (NF) is a genetic disease that causes tumors to develop in the nervous system. There are three types of neurofibromatosis:
- Neurofibromatosis type 1 (NF1). Signs and symptoms are usually present at birth.
- Neurofibromatosis type 2 (NF2). Signs and symptoms often start presenting in the teen years.
- Schwannomatosis. Signs and symptoms often start presenting in adulthood (25-30 years). It is the rarest type.
Pathophysiology and Epidemiology
All three types of NF are inherited in an autosomal dominant manner. NF1 is caused by genetic changes in the NF1 gene. NF2 is caused by a mutation of the NF2 gene. Some cases of schwannomatosis are caused by mutations in the SMARCB1 or LZTR1 genes, which are tumor suppressor genes.
Annette Bakker, PhD: The Role of MEK Inhibitors in NF1
Signs and Symptoms
The most common symptoms of NF1 include
- Skin changes (cafe-au-lait spots, freckling in armpit and groin area)
- Bone abnormalities
- Optic gliomas
- Tumors on the nerve tissue or under the skin.
- Cutaneous neurofibromas
- Plexiform neuromas
- Learning disabilities
- Seizures
- Autism spectrum disorder
- High blood pressure
- Short stature
- Macrocephaly
- Scoliosis
The most common symptoms of NF2 include
- Acoustic neuromas
- Hearing loss
- Ringing in the ears
- Poor balance
- Brain and/or spinal tumors
- Meningiomas
- Hamartomas
- Cataracts at a young age
The most common symptoms of schwannomatosis include:
- Schwannomas
- Pain
- Numbness
- Weakness
Management and Treatment
There is no cure for NF. Treatment is aimed at controlling symptoms and may include surgery to remove tumors, radiation therapy, and/or medicines.
FDA approved treatments for NF1 include:
- Selumetinib (Brand name: Koselugo)
Clinical Trials
For a full list of clinical trials relating to NF, go here.
Resources
Children’s Tumor Foundation (CTF)
To learn more about rare cancers, visit our Rare Cancers page
