Experts cover key updates in the management of patients with Neurofibromatosis Type 1 with Plexiform Neurofibromas, or NF1-PN, while also exploring the pathophysiology of NF1-PN, the management of it and potential treatment options
May 9th 2025EP. 1: Genetic And Molecular Mechanisms of NF1
Panelists discuss how mutations in the NF1 gene lead to loss of neurofibromin function, resulting in hyperactivation of the RAS/MAPK and PI3K/AKT/mTOR pathways, and how this molecular dysregulation drives abnormal cell proliferation and tumor development in NF1.
May 9th 2025EP. 2: Diagnosis, Epidemiology, And Risk Factors Of NF1-PN
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.
May 16th 2025EP. 3: Hallmark Symptoms and Clinical Features of NF1-PN
Panelists discuss how plexiform neurofibromas in NF1 often emerge in early childhood with progressive growth and symptoms such as disfigurement, pain, and neurologic deficits, noting that rapid enlargement may indicate malignant transformation, and that presentation and complications differ between pediatric and adult patients.
May 16th 2025EP. 4: Quality of Life in Patients With NF1-PN
Panelists discuss how NF1-associated plexiform neurofibromas can cause significant morbidity, including disfigurement, pain, and neurologic impairment, with the risk of malignant transformation, and emphasize the impact of these tumors on quality of life, daily functioning, and prognosis based on tumor characteristics and access to care.