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A mosaic variant in MAP2K1 is associated with giant naevus-spilus type congenital melanocytic naevus and melanoma development.

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journal contribution
posted on 07.10.2020 by S Muthiah, S Polubothu, A Husain, T Oliphant, VA 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.

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