Neurofibromatosis and Schwannoma Cases

Neurofibromatosis refers to a group of inherited genetic disorders, most commonly Types 1 and 2, in which mutations in tumor suppressor genes cause uncontrolled growth of tumors along nerve tissue throughout the body. The proteins encoded by these genes — neurofibromin in NF1 and merlin in NF2 — normally regulate cell proliferation in Schwann cells, the glial cells that insulate peripheral nerves, and their loss can lead to a spectrum of complications ranging from benign neurofibromas to aggressive malignant peripheral nerve sheath tumors and gliomas. Researchers are working to understand precisely how disrupted signaling cascades downstream of these mutations drive tumor formation and cognitive deficits, and why clinical severity varies so widely even among patients carrying identical mutations. A central open question is how proteins like ezrin interact with merlin to influence tumor suppression, with the goal of identifying molecular targets that could yield more effective therapies than current surgical approaches alone.

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Keywords

NeurofibromatosisTumor SuppressorSchwann CellsMalignant Peripheral Nerve Sheath TumorsGliomasEzrin Protein