Genetic And Molecular Mechanisms of NF1

Now Viewing

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

EP: 5.Key Clinical Considerations in NF1-PN Management

EP: 6.Unmet Needs of Patients Living With NF1-PN

EP: 7.Main Goals in the Management of NF1-PN

EP: 8.Rationale for MEK Inhibitors and Surgery

EP: 9.Selumetinib as a Therapeutic Option for NF1-PN

EP: 10.Examining Combination Therapy In NF1-PN

EP: 11.Barriers to Optimal NF1-PN Care for Patients

EP: 12.Lessons From Previously Used Therapies In NF1-PN

EP: 13.ReNeu Trial & Efficacy of Mirdametinib in NF1-PN

EP: 14.Mirdametinib as a Therapy for Patients With NF1-PN

EP: 15.The Role of Biomarkers in NF1-PN Care

EP: 16.Guideline Recommendations for Newer NF1-PN Therapies

EP: 17.Potential of Gene Therapy for NF1-PN

EP: 18.Exploring The Future of NF1-PN Management

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.