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Genomic analysis and clinical management of adolescent cutaneous melanoma.

Roy RabbieMamunur RashidAna M AranceMarcelo SánchezGemma Tell-MartiMiriam PotronyCarles ConillRemco van DoornStefan DentroNelleke A GruisPippa CorrieVivek IyerCarla Daniela Robles-EspinozaJoan A Puig-ButilleSusana PuigDavid J Adams
Published in: Pigment cell & melanoma research (2017)
Melanoma in young children is rare; however, its incidence in adolescents and young adults is rising. We describe the clinical course of a 15-year-old female diagnosed with AJCC stage IB non-ulcerated primary melanoma, who died from metastatic disease 4 years after diagnosis despite three lines of modern systemic therapy. We also present the complete genomic profile of her tumour and compare this to a further series of 13 adolescent melanomas and 275 adult cutaneous melanomas. A somatic BRAFV600E mutation and a high mutational load equivalent to that found in adult melanoma and composed primarily of C>T mutations were observed. A germline genomic analysis alongside a series of 23 children and adolescents with melanoma revealed no mutations in known germline melanoma-predisposing genes. Adolescent melanomas appear to have genomes that are as complex as those arising in adulthood and their clinical course can, as with adults, be unpredictable.
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