The first study of NF1-associated tumor progression in a single patient from PN to primary MPNST and MPNST metastasis using whole exome sequencing (WES) of biopsies [31] found biallelic NF1 mutations in all tumor stages, chromosome 17p (TP53) loss in primary MPNST and metastasis, and no CDKN2A deletions or EGFR amplifications. This evidence concerns the gene CDKN2A and neoplasm.