Navegando por Palavras-chave "ASPSCR1 protein"

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    Rhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in RYR1 and ASPSCR1 May Play a Role
    (MDPI, 2023-06-27) Silva, Helga Cristina Almeida da [UNIFESP]; Andrade, Pâmela Vieira de [UNIFESP]; Santos, Joilson Moura dos [UNIFESP]; Teixeira, Anne Caroline Barbosa; Sogari, Vanessa Fante [UNIFESP]; Almeida, Michelle Samora de [UNIFESP]; Callegari, Fabiano Mesquita [UNIFESP]; Krepischi, Ana Cristina Victorino; Oliveira, Acary Souza Bulle [UNIFESP]; Vainzof, Mariz; http://lattes.cnpq.br/0844918862241102; http://lattes.cnpq.br/3536599065009604; http://lattes.cnpq.br/6003112490584362; http://lattes.cnpq.br/5831744666871099; http://lattes.cnpq.br/8532360349998803; http://lattes.cnpq.br/0529812898512530; http://lattes.cnpq.br/0513711533904879; http://lattes.cnpq.br/9202788560457272; http://lattes.cnpq.br/3911841387107665; http://lattes.cnpq.br/2151728380413759
    Rhabdomyosarcomas have been described in association with thyroid disease, dermatomyositis, Duchenne muscular dystrophy, and in muscular dystrophy models but not in patients with ryanodine receptor-1 gene (RYR1) pathogenic variants. We described here an 18-year-old male who reported a cervical nodule. Magnetic resonance images revealed a mass in the ethmoidal sinus corresponding to rhabdomyosarcoma. As his father died from malignant hyperthermia (MH), an in vitro contracture test was conducted and was positive for MH susceptibility. Muscle histopathological analysis in the biopsy showed the presence of cores. Molecular analysis using NGS sequencing identified germline variants in the RYR1 and ASPSCR1 (alveolar soft part sarcoma) genes. This report expands the spectrum of diseases associated with rhabdomyosarcomas and a possible differential diagnosis of soft tissue tumors in patients with RYR1 variants.