About NF1-PN

About NF1-PN: an often debilitating and in many cases life-changing condition1

A Genetic Condition

Neurofibromatosis type 1 (NF1) is a genetic disorder with minimum estimated prevalence in children and adults of 1 in 3,000 to 4,000 worldwide and is caused by a pathogenic variant in the NF1 tumour suppressor gene.2
NF1 is the most prevalent of the known neurofibromatosis syndromes, a group of genetic disorders that are associated with the development of tumours on nerve tissues.3

30–50% of children and adults with NF1 develop PNs1, 5

Possible Risk of Malignant Transformation

A particularly serious complication of NF1 is the potential malignant transformation of PNs into malignant peripheral nerve sheath tumours (MPNSTs), which occur in up to 16% of patients with NF1.6, 7
MPNSTs are associated with a 5-year overall survival rate ranging from 14%8 to 50%.6

Clinical Needs and Management

Given the debilitating and in many cases life-changing nature1 of NF1-PN, there is a critical need for early diagnosis, regular clinical assessment and monitoring, and long-term multidisciplinary management.9

References
Ejerskov C, Farholt S, Nielsen FSK, et al. Clinical characteristics and management of children and adults with neurofibromatosis type 1 and plexiform neurofibromas in Denmark: a nationwide study. Oncol Ther. 2023;11(1):97–110.
Lee T-SJ, Chopra M, Kim RH, Parkin PC, Barnett-Tapia C. Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis. Orphanet J Rare Dis. 2023;18(1):292.
Tamura R. Current understanding of neurofibromatosis type 1, 2, and schwannomatosis. Int J Mol Sci. 2021;22(11):5850.
Copley-Merriman C, Yang X, Juniper M, et al. Natural History and Disease Burden of Neurofibromatosis Type 1 with Plexiform Neurofibromas: A Systematic Literature Review. Adolesc Health Med Ther. 2021;12:55–66.
Darrigo LG Jr, Ferraz VEF, Cormedi MCV, et al. Epidemiological profile and clinical characteristics of 491 Brazilian patients with neurofibromatosis type 1. Brain Behav. 2022;12(6):e2599.
Higham CS, Dombi E, Rogiers A, et al. The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors. Neuro Oncol. 2018;20(6):818–825.
Miettinen MM, Antonescu CR, Fletcher CDM, et al. Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1—a consensus overview. Hum Pathol. 2017;67:1–10.
Zehou O, Fabre E, Zelek L, et al. Chemotherapy for the treatment of malignant peripheral nerve sheath tumors in neurofibromatosis 1: a 10-year institutional review. Orphanet J Rare Dis. 2013;8:127.
Carton C et al. ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1. eClinicalMedicine. 2023;56:101818.