Neurofibromatosis Type 1: New Developments in Genetics and Treatment

Neurofibromatosis type 1 is the most common neurocutaneous syndrome with a frequency of 1 in 2500 persons. Diagnosis is paramount in the pretumor stage in order to provide proper anticipatory guidance for a number of neoplasms, both benign and malignant. Loss of function mutations in the NF1 gene result in a truncated and non-functional production of neurofibromin, a tumor suppressor protein involved in downregulating the RAS signaling pathway. New therapeutic and preventive options include tyrosine kinase inhibitors, mTOR inhibitors, interferons, and radiofrequency therapy. This review summarizes recent updates in genetics, mutation analysis assays, and treatment options targeting aberrant genetic pathways. We also propose modified diagnostic criteria and provide an algorithm for surveillance of patients with neurofibromatosis type 1.

Keywords: RAS; interferon; mTOR inhibitor; mutation analysis; neurofibromatosis; radiofrequency therapy; tyrosine kinase inhibitor.