Neurofibromatosis type 1 (NF1) is a genetic condition in which benign tumors arise along nerves anywhere in the body. Treatment for these tumors most often includes surgery; it sometimes also includes chemotherapy, radiation therapy or both.
NF1 is the most common of a group of genetic conditions collectively called neurofibromatosis. The other conditions in this group are neurofibromatosis type 2 (NF2) and schwannomatosis. Neurofibromatosis is part of a broad category of neurological disorders called neurocutaneous syndromes.
NF1 causes small, benign tumors called neurofibromas that grow along nerves or under the skin and manifest as small bumps underneath the skin. These tumors typically do not arise until adolescence or adulthood.
When neurofibromas span long sections along nerves, they are called plexiform neurofibromas. About half of individuals with NF1 develop plexiform neurofibromas. Although benign, plexiform neurofibromas can grow large and cause significant pain and problems due to their compression of nearby nerves. These tumors can later become more aggressive, converting to malignant peripheral nerve sheath tumors.
Individuals with NF1 may also develop tumors in other locations, including tumors of the brain and spine. (For information about spinal tumors in NF1 and NF2, please click here.) Possible brain tumors include gangliomas, optic gliomas, juvenile pilocytic astrocytomas and brainstem gliomas. Optic gliomas are the most common.
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