Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations of the NF1 tumor suppressor gene, characterized by café-au-lait spots, neurofibromas, and Lisch nodules. Malignant peripheral nerve sheath tumor (MPNST) is an extremely rare malignancy with neural differentiation potential. The lifetime risk of developing MPNST in NF-1 patients is 8%-13%.

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