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- W3048606653 abstract "Congenital melanocytic nevi (CMN) are heterogeneous in their clinical appearance and implications and range in size from small to large and/or giant. Large–giant CMN (LGCMN) have an increased risk of malignant transformation, and the most severe complication manifests as melanoma of the CNS. Mutations in the oncogene NRAS are the most frequently observed; however, this postzygotic mutation is not present in all subtypes of CMN. In a study of LGCMN, Martins da Silva et al. (2019) performed RNA sequencing and multiregional sequencing (median coverage approximately ×19,000) using a targeted panel of genes (see Supplementary Materials) and discovered that ∼60% harbored an NRAS mutation, but other rare events such as gene fusions were identified." @default.
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- W3048606653 date "2021-03-01" @default.
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- W3048606653 title "The Distinctive Genomic Landscape of Giant Congenital Melanocytic Nevi" @default.
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- W3048606653 doi "https://doi.org/10.1016/j.jid.2020.07.022" @default.
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