SPOTLIGHT ON

NEUROFIBROMATOSIS TYPE 1 WITH PLEXIFORM NEUROFIBROMAS (NF1-PN)

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About NF1-PN

An often debilitating and in many cases life-changing condition that calls for early diagnosis, continuous monitoring and life-long multi-disciplinary management.1, 2

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Disease burden and unmet needs

Up to 50% of individuals with NF1 develop plexiform neurofibromas, which can lead to physical, psychological and cognitive challenges.2–4

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Diagnosis and management

It is recommended that the treatment of NF1 is carried out using a multidisciplinary approach (MDT) with specialists who have experience in the treatment of PN associated with NF1.1, 5

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References
Carton C et al. ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1. eClinicalMedicine. 2023;56:101818.
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.
Miller DT, Freedenberg D, Schorry E, Ullrich NJ, Viskochil D, Korf BR; Council on Genetics; American College of Medical Genetics and Genomics. Health supervision for children with neurofibromatosis type 1. Pediatrics. 2019;143(5):e20190660.
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.
Farschtschi S, Vaassen P, Kluwe L, Hartung T, Salamon J, Rosenbaum T. Age adapted diagnostic evaluation and treatment of patients with neurofibromatosis type 1 in Germany. Dtsch Arztebl Int 2025; 112(3)