Pigment cell & melanoma research · 2017
Genomic analysis and clinical management of adolescent cutaneous melanoma.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
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История · было → стало
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Rabbie Roy, Rashid Mamunur, Arance Ana M, Sánchez Marcelo, Tell-Marti Gemma, Potrony Miriam, Conill Carles, van Doorn Remco, Dentro Stefan, Gruis Nelleke A, Corrie Pippa, Iyer Vivek, Robles-Espinoza Carla Daniela, Puig-Butille Joan A, Puig Susana, Adams David J
Аннотация
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.