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. 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. Subungual glomus tumors: Underrecognized clinical findings in neurofibromatosis 1Journal of the American Academy of DermatologyVol. 84Issue 6PreviewTo the Editor: Wilson et al1 have written a detailed review on the genetics, diagnosis, and treatment of neurofibromatosis type 1 (NF1). They highlight that the incidence of NF1 is 1 in 2500 persons, making it the most common neurocutaneous syndrome. They stress the importance of early diagnosis for the management of neoplasms. Disease pathogenesis results from loss-of-function mutations in the NF1 gene, producing a defective neurofibromin protein, and subsequent activation of the RAS signaling pathway. Full-Text PDF