Epidemiology
A benign nerve tumor, either solitary or associated with neurofibromatosis type 1. If it is plexiform or appears in neurofibromatosis type 1, new pain or rapid growth calls for ruling out malignant transformation.
Basic features
It can be cutaneous, subcutaneous, or plexiform; the plexiform ones are more significant because of their growth and their risk of transformation.
Usual treatment
Observation if it is stable; surgery is considered for pain, deficit, growth, or suspicion of malignant change. In neurofibromatosis type 1, when a plexiform neurofibroma is symptomatic and cannot be operated on, targeted therapies against the MAPK pathway exist: MEK inhibitors (selumetinib in children and adolescents, mirdametinib in children and adults) can reduce the volume of the tumor and the symptoms. They are specialist drugs, they require monitoring for side effects, and the availability of both varies from country to country.
Outcomes and prognosis
Solitary ones usually do well; in NF1, follow-up aims to detect rapid growth or persistent pain.