Rhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in RYR1 and ASPSCR1 May Play a Role

dc.contributorhttp://lattes.cnpq.br/0844918862241102
dc.contributorhttp://lattes.cnpq.br/3536599065009604
dc.contributorhttp://lattes.cnpq.br/6003112490584362
dc.contributorhttp://lattes.cnpq.br/5831744666871099
dc.contributorhttp://lattes.cnpq.br/8532360349998803
dc.contributorhttp://lattes.cnpq.br/0529812898512530
dc.contributorhttp://lattes.cnpq.br/0513711533904879
dc.contributorhttp://lattes.cnpq.br/9202788560457272
dc.contributorhttp://lattes.cnpq.br/3911841387107665
dc.contributorhttp://lattes.cnpq.br/2151728380413759
dc.creatorSilva, Helga Cristina Almeida da [UNIFESP]
dc.creatorAndrade, Pâmela Vieira de [UNIFESP]
dc.creatorSantos, Joilson Moura dos [UNIFESP]
dc.creatorTeixeira, Anne Caroline Barbosa
dc.creatorSogari, Vanessa Fante [UNIFESP]
dc.creatorAlmeida, Michelle Samora de [UNIFESP]
dc.creatorCallegari, Fabiano Mesquita [UNIFESP]
dc.creatorKrepischi, Ana Cristina Victorino
dc.creatorOliveira, Acary Souza Bulle [UNIFESP]
dc.creatorVainzof, Mariz
dc.date.accessioned2023-06-29T19:22:35Z
dc.date.accessioned2023-09-04T18:03:17Z
dc.date.available2023-06-29T19:22:35Z
dc.date.available2023-09-04T18:03:17Z
dc.date.created2023-06-29T19:22:35Z
dc.date.issued2023-06-27
dc.identifierhttps://repositorio.unifesp.br/11600/68417
dc.identifier10.3390/genes14071360
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8612399
dc.description.abstractRhabdomyosarcomas 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.
dc.publisherMDPI
dc.relationGenes
dc.rightsAcesso aberto
dc.subjectMalignant hyperthermia
dc.subjectRhabdomyosarcoma
dc.subjectCentral core disease
dc.subjectRyanodine receptor
dc.subjectASPSCR1 protein
dc.titleRhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in RYR1 and ASPSCR1 May Play a Role
dc.typeArtigo


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