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Genomic analysis and clinical management of adolescent cutaneous melanoma
Author(s) -
Rabbie Roy,
Rashid Mamunur,
Arance Ana M.,
Sánchez Marcelo,
TellMarti Gemma,
Potrony Miriam,
Conill Carles,
Doorn Remco,
Dentro Stefan,
Gruis Nelleke A.,
Corrie Pippa,
Iyer Vivek,
RoblesEspinoza Carla Daniela,
PuigButille Joan A.,
Puig Susana,
Adams David J.
Publication year - 2017
Publication title -
pigment cell and melanoma research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.618
H-Index - 105
eISSN - 1755-148X
pISSN - 1755-1471
DOI - 10.1111/pcmr.12574
Subject(s) - melanoma , germline , germline mutation , medicine , disease , somatic cell , young adult , incidence (geometry) , oncology , mutation , cancer research , genetics , gene , biology , physics , optics
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 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.