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. The gene discussed is CDKN2A; the disease is malignant peripheral nerve sheath tumor.