A mosaic variant in MAP2K1 is associated with giant naevus-spilus type congenital melanocytic naevus and melanoma development
Authors listS Muthiah S Polubothu A Husain T Oliphant Veronica Kinsler N Rajan
Giant congenital melanocytic naevi (CMN) arise primarily due to postzygotic mutations in NRAS, and are of clinical importance due to their increased risk of malignant transformation.1 A subtype of large CMN, termed naevus spilus (NS)-type CMN, is identified by the presence of a patch which may have café-au-lait pigmentation and superimposed macular or papular lesions, which are demonstrably melanocytic naevi on histology.
Journal British Journal of Dermatology
Pages Epub ahead of print