Opinion
Video
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.
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.
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