This group of patients would include individuals with large Nf1 microdeletions, in which the lifetime risk for MPNST is increased to 16–26% [7,35]; patients with an NF1 p.844–848 missense mutation, who have a higher predisposition for symptomatic neurofibromas, optic pathway gliomas and malignancies compared with the general NF1-affected population [36] and NF1 patients with Arg1276 variants, who are also at a higher risk of developing symptomatic tumors and MPNSTs [31]. This evidence concerns the gene NF1 and malignant peripheral nerve sheath tumor.