The genomic landscape of childhood and adolescent melanoma.

摘要: Despite remarkable advances in the genomic characterization of adult melanoma, molecular pathogenesis pediatric melanoma remains largely unknown. We analyzed 15 conventional melanomas (CMs), 3 arising congenital nevi (CNMs), and 5 spitzoid (SMs), using various platforms, including whole genome or exome sequencing, inversion probe assay, and/or targeted sequencing. CMs demonstrated a high burden somatic single-nucleotide variations (SNVs), with each case containing TERT promoter (TERT-p) mutation, 13/15 an activating BRAF V600 >80% identified SNVs consistent UV damage. In contrast, three CNMs contained NRAS Q61 mutation no TERT-p mutations. SMs were characterized by chromosomal rearrangements resulting activated kinase signaling 40%, absence mutations, except for one SM that succumbed to hematogenous metastasis. conclude CM has very similar UV-induced mutational spectrum found counterpart, emphasizing need promote sun protection practices early life improve access therapeutic agents being explored adults young patients. CNM appears be distinct. mutations may identify rare subset melanocytic lesions prone disseminate.