Journal
PIGMENT CELL & MELANOMA RESEARCH
Volume 30, Issue 3, Pages 307-316Publisher
WILEY
DOI: 10.1111/pcmr.12574
Keywords
adolescent melanoma; germline mutation; ultraviolet radiation; BRAF mutation; immunotherapy
Categories
Funding
- Cancer Research UK
- Wellcome Trust
- Spanish Fondo de Investigaciones Sanitarias [PI12/00840, PI15/00716, PI15/00956]
- CIBER de Enfermedades Raras of the Instituto de Salud Carlos III, Spain
- European Development Regional Fund 'A way to achieve Europe' ERDF
- AGAUR of the Catalan Government, Spain [2014_SGR_603]
- European Commission [LSHC-CT-2006-018702]
- Fundacio La Marato de TV3, Catalonia, Spain [201331-30]
- Telemaraton of Spain
- Asociacion Espanola Contra el Cancer (AECC)
- Instituto de Salud Carlos III, Spain [FI14/00231]
- Dutch Cancer Society [UL 2012-5489]
- Cancer Research UK [13031] Funding Source: researchfish
- National Institute for Health Research [ACF-2014-14-009] Funding Source: researchfish
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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(V600E) 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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