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 to provide proper anticipatory guidance for a number of neoplasms, both benign and malignant. Loss-of-function mutations in the NF1 gene result in truncated and nonfunctional 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.

Automated summary

Neurofibromatosis type 1 is a common disorder that requires early diagnosis for proper guidance on preventive measures. Mutations in the NF1 gene lead to loss of function of the neurofibromin protein, which affects the regulation of the RAS signaling pathway. Treatment options include drugs and radiofrequency therapy.