Abstract Background Neurofibromatosis type 1 (NF1) is a multisystem genetic condition. Up to 50% of individuals with NF1 develop plexiform neurofibromas (PN) that can cause pain and significant morbidity, impairing quality of life. As of December 2025, only a limited number of countries have an approved medical treatment for adults with NF1-PN. A systematic literature review (SLR; PROSPERO CRD42023463980) was conducted to better understand disease burden and unmet need in this population. Methods An evidence prioritization strategy identified studies reporting on NF1-PN populations with ≥50% adults from database searches conducted between 1988 and July 20, 2023. Studies published in the last 15 years were extracted. Results Of 3242 identified sources, 57 publications (53 unique studies) were included. The proportion of adults with NF1 who had PN ranged from 11.8 − 84.9% (n = 9 studies). Annual median change in untreated PN volume was –3.7% to + 8.3% (n = 5 articles). Pain was the most common PN-related manifestation (32.0 − 38.4% of patients; n = 12 articles). Malignant PN transformation occurred in 2.0–4.1% of patients (n = 5 cohorts); three shorter-term studies reported no transformation. Surgery was performed in 69.5% of patients (n = 7 cohorts); post-operative complications occurred in 13.0–30.0% (n = 3 articles). Analgesia was the most reported pharmacological treatment (37.9% of patients; n = 7 articles). Limited data indicated PN monitoring, and surgery cause substantial resource use. No studies reported on caregiver burden, healthcare costs, or transition from pediatric to adult care. Conclusions Adults with NF1-PN experience high disease burden. Data gaps exist for epidemiology, transition of care, caregiver burden, healthcare cost, and resource use.
Mrgula et al. (Tue,) studied this question.