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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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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.

Предметные рубрики MeSH

ИП Урсолов Владлен Сергеевич

ИНН 500118482352 · ОГРНИП 314500117700049

Реквизиты и контакты