Genomic analysis and clinical management of adolescent cutaneous melanoma. (19th April 2017)

• Record Type: Journal Article
• Authors: Rabbie, Roy; Rashid, Mamunur; Arance, Ana M.; Sánchez, Marcelo; Tell‐Marti, Gemma; Potrony, Miriam; Conill, Carles; van Doorn, Remco; Dentro, Stefan; Gruis, Nelleke A.; Corrie, Pippa; Iyer, Vivek; Robles‐Espinoza, Carla Daniela; Puig‐Butille, Joan A.; Puig, Susana; Adams, David J.
• Is Part Of: Pigment cell & melanoma research. Volume 30:Number 3(2017)
• Page Start: 307
• Page End: 316
• Publication Date: 2017-04-19
• Subjects: adolescent melanoma -- germline mutation -- ultraviolet radiation -- BRAF mutation -- immunotherapy; Melanoma -- Periodicals; Chromatophores -- Periodicals; Animal pigments -- Periodicals; 616.99477
• DOI: 10.1111/pcmr.12574
• Languages: English
• ISSNs: 1755-1471

Abstract

Summary: 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 BRAF V 600E 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.