Summary for Physicians
Neurofibromatosis type 1–associated plexiform neurofibromas (NF1-PN) are chronic, often progressive tumors that can lead to significant morbidity due to disfigurement, pain, neurologic impairment, and risk of malignant transformation (MPNST). Mortality is primarily associated with MPNST, which occurs in approximately 10% to 15% of patients with PN. Prognosis varies based on tumor location, size, growth rate, and complications.
Quality of life is often significantly impaired due to chronic pain, mobility limitations, cosmetic concerns, and psychosocial stress. Key factors affecting daily functioning include tumor burden, access to care, pain control, and support systems.
