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Genomic analysis and clinical management of adolescent cutaneous melanoma |
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| Authors: | Ana M Arance Marcelo Sánchez Gemma Tell‐Marti Miriam Potrony Carles Conill Remco van Doorn Stefan Dentro Nelleke A Gruis Pippa Corrie Vivek Iyer Carla Daniela Robles‐Espinoza Joan A Puig‐Butille David J Adams |
| Institution: | 1. Department of Medical Oncology and Targeted Therapeutics in Solid Tumors Group (IDIBAPS), Hospital Cl?nic de Barcelona, Barcelona, Spain;2. Melanoma Unit, Radiology Service, Hospital Cl?nic, IDIBAPS, University of Barcelona, Barcelona, Spain;3. Melanoma Unit, Department of Dermatology, Hospital Cl?nic de Barcelona, Barcelona, Spain;4. Centre of Biomedical Research on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain;5. Melanoma Unit, Department of Dermatology, Hospital Cl?nic de Barcelona, IDIBAPS, Barcelona University, Barcelona, Spain;6. Melanoma Unit, Radiotherapy Oncology, Hospital Cl?nic, IDIBAPS, Barcelona University, Barcelona, Spain;7. Leiden University Medical Centre, Leiden, The Netherlands;8. Experimental Cancer Genetics, The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, UK;9. Department of Oncology, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge, UK;10. Laboratorio Internacional de Investigacion sobre el Genoma Humano, Universidad Nacional Autonoma de Mexico, Santiago de Queretaro, Mexico;11. Biochemistry and Molecular Genetics Department, Melanoma Unit, Hospital Clinic de Barcelona, IDIBAPS, Barcelona, Spain;12. Experimental Cancer Genetics, The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, UKThese authors contributed equally. |
| Abstract: | 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. |
| Keywords: | adolescent melanoma germline mutation ultraviolet radiation BRAF mutation immunotherapy |