Additional mutations or copy number alterations of genes such as TP53, SUZ12, EGFR, CDKN2A, and TERT that are often not present in benign PN suggest that these alterations represent advanced progression to atypical neurofibroma (AN) and MPNST (Cichowski et al., 1999; De Raedt et al., 2014; Legius et al., 1994; Perry et al., 2002; Zhang et al., 2014). The gene discussed is TERT; the disease is poikiloderma with neutropenia.