Diagnosis, Epidemiology, And Risk Factors Of NF1-PN

Author(s):

Ryan Haumschild, PharmD, MS, MBA,Mina Lobbous, MD, MSPH

Panelists discuss how neurofibromatosis type 1 (NF1) is typically diagnosed in early childhood using National Institutes of Health (NIH) clinical criteria, with genetic testing supporting unclear cases, and highlight the global prevalence of NF1 and the high incidence of plexiform neurofibromas, which affect up to 50% of patients regardless of racial or geographic background.

EP: 1.Genetic And Molecular Mechanisms of NF1

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EP: 2.Diagnosis, Epidemiology, And Risk Factors Of NF1-PN

Summary for Physicians

NF1 is predominantly diagnosed in early childhood, typically between ages 4 and 6. Diagnosis is based on NIH clinical criteria, which include: ≥6 café-au-lait macules, ≥2 neurofibromas or 1 plexiform neurofibroma (PN), axillary or inguinal freckling, optic glioma, ≥2 Lisch nodules, characteristic osseous lesions, or a first-degree relative with NF1. Genetic testing may aid in unclear cases.

Globally, NF1 affects approximately 1 in 3000 individuals. Plexiform neurofibromas (PN), a subtype of NF1-associated tumors, occur in up to 50% of patients with NF1. There is no known racial or geographic predisposition; all individuals with an NF1 mutation are at risk for developing PNs.