Natural History and Clinical Evolution of Peripheral Nerve Sheath Tumors in Neurofibromatosis

Neurofibromatosis type 1 (NF1) is an autosomal dominant, genetic condition characterized by the development of a variety of manifestations including histologically benign and malignant peripheral nerve sheath tumors (PNST) [1, 2]. Mutations in the NF1 tumor suppressor result in RAS pathway activation, which is critical to the pathogenesis of PNST [3]. Much has been learned about the natural history and clinical evolution of these tumors during the past two decades [4–6]. This increased understanding has been instrumental to the development of prevention and management strategies, interventional clinical trials, and the first regulatory approval of a medical treatment for PNST. In this chapter, we will review the current knowledge of the natural history of PNST and its implications for clinical management.