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Neurofibromatosis type 1 (NF1)
Neurofibromatosis type 1 (NF1) is a rare genetic disorder that arises from mutations in the NF1 gene, which encodes for neurofibromin, a key suppressor of the MAPK pathway.1,2 The symptoms of NF1 can manifest in a variety of ways across a variety of organ systems, potentially causing abnormal skin pigmentation, skeletal deformities, tumor growth and neurological complications, such as cognitive impairment.3 People with NF1 have a 30%-50% lifetime risk of developing plexiform neurofibromas (PN), which are tumors that grow along the peripheral nerve sheath.3, 4, 5 These tumors are typically diagnosed within the first two decades of life and grow more rapidly during childhood.6,7 PNs can cause severe disfigurement, pain, and functional impairment, and in rare cases can be fatal.3,4,5
NF1 affects approximately 3 in 10,000 people in the EU, or an estimated 135,000 people.6
References:
- Yap YS, McPherson JR, Ong CK, et al. The NF1 gene revisited – from bench to bedside. Oncotarget. 2014;5(15):5873-5892. doi:10.18632/oncotarget.2194.
- Rasmussen S, Friedman J. NF1 gene and neurofibromatosis 1. Am J Epidemiol. 2000;151(1):33-40. doi:10.1093/oxfordjournals.aje.a010118.
- Weiss BD, Wolters PL, Plotkin SR, et al. NF106: A neurofibromatosis clinical trials consortium Phase II trial of the MEK inhibitor mirdametinib (PD-0325901) in adolescents and adults with NF1-related plexiform neurofibromas. J Clin Oncol. 2021;JCO.20.02220. doi:10.1200/JCO.20.02220.
- Prada C, Rangwala F, Martin L, et al. Pediatric plexiform neurofibromas: impact on morbidity and mortality in neurofibromatosis type 1. J Pediatr. 2012;160(3):461-467. doi:10.1016/j. jpeds.2011.08.051.
- Miller DT, et al. Health supervision for children with neurofibromatosis Type 1. Pediatrics. 2019;143(5):e20190660. doi:10.1542/peds.2019-0660.
- European Medicines Agency (EMA). EU/3/18/2050 – orphan designation for treatment of neurofibromatosis type 1. Available at: https://www.ema.europa.eu/en/medicines/human/ orphan-designations/eu-3-18-2050#:~:text=On%2031%20July%202018%2C%20orphan,since%20date%2017%20June%202021. Accessed June 12, 2025.
- Stacchiotti S, Dürr HR, Schaefer IM, et al. Best clinical management of tenosynovial giant cell tumour (TGCT): a consensus paper from the community of experts. Cancer Treat Rev. 2023;112:102491. doi:10.1016/j.ctrv.2022.102491