This is similar to a previous report of a splicing variant in CDKN2A (NM_000077.4:c.151–1G>C) that resulted in inactivation of both gene isoforms (Sargen et al., 2016) and which was observed in DNA samples from three members of a family affected by melanoma and multiple nerve sheath tumors, some of which showed overlapping schwannoma and neurofibroma features. Here, CDKN2A is linked to plexiform neurofibroma.