Genomic analysis and clinical management of adolescent cutaneous melanoma

Pigment Cell Melanoma Res. 2017 May;30(3):307-316. doi: 10.1111/pcmr.12574. Epub 2017 Apr 19.

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

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Female
  • Genomics*
  • Germ Cells / metabolism
  • Humans
  • Male
  • Melanoma / diagnostic imaging
  • Melanoma / genetics*
  • Melanoma / pathology
  • Melanoma, Cutaneous Malignant
  • Pedigree
  • Positron Emission Tomography Computed Tomography
  • Skin Neoplasms / diagnostic imaging
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / pathology