4.5 Article

Genomic analysis and clinical management of adolescent cutaneous melanoma

Journal

PIGMENT CELL & MELANOMA RESEARCH
Volume 30, Issue 3, Pages 307-316

Publisher

WILEY
DOI: 10.1111/pcmr.12574

Keywords

adolescent melanoma; germline mutation; ultraviolet radiation; BRAF mutation; immunotherapy

Funding

  1. Cancer Research UK
  2. Wellcome Trust
  3. Spanish Fondo de Investigaciones Sanitarias [PI12/00840, PI15/00716, PI15/00956]
  4. CIBER de Enfermedades Raras of the Instituto de Salud Carlos III, Spain
  5. European Development Regional Fund 'A way to achieve Europe' ERDF
  6. AGAUR of the Catalan Government, Spain [2014_SGR_603]
  7. European Commission [LSHC-CT-2006-018702]
  8. Fundacio La Marato de TV3, Catalonia, Spain [201331-30]
  9. Telemaraton of Spain
  10. Asociacion Espanola Contra el Cancer (AECC)
  11. Instituto de Salud Carlos III, Spain [FI14/00231]
  12. Dutch Cancer Society [UL 2012-5489]
  13. Cancer Research UK [13031] Funding Source: researchfish
  14. 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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