Genetic And Molecular Mechanisms of NF1

Author(s):

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

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.

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EP: 1.Genetic And Molecular Mechanisms of NF1

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

EP: 3.Hallmark Symptoms and Clinical Features of NF1-PN

EP: 4.Quality of Life in Patients With NF1-PN

Summary for Physicians

NF1 results from mutations in the NF1 gene on chromosome 17, which encodes neurofibromin—a tumor suppressor that negatively regulates the RAS/MAPK pathway. Loss of neurofibromin function leads to hyperactivation of RAS signaling, promoting abnormal cell proliferation and tumor formation. Additional downstream pathways, such as PI3K/AKT/mTOR, are also implicated in disease progression.