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

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dc.contributor.authorSilva, Helga Cristina Almeida da [UNIFESP]
dc.contributor.authorAndrade, Pâmela Vieira de [UNIFESP]
dc.contributor.authorSantos, Joilson Moura dos [UNIFESP]
dc.contributor.authorTeixeira, Anne Caroline Barbosa
dc.contributor.authorSogari, Vanessa Fante [UNIFESP]
dc.contributor.authorAlmeida, Michelle Samora de [UNIFESP]
dc.contributor.authorCallegari, Fabiano Mesquita [UNIFESP]
dc.contributor.authorKrepischi, Ana Cristina Victorino
dc.contributor.authorOliveira, Acary Souza Bulle [UNIFESP]
dc.contributor.authorVainzof, Mariz
dc.contributor.authorLatteshttp://lattes.cnpq.br/0844918862241102pt_BR
dc.contributor.authorLatteshttp://lattes.cnpq.br/3536599065009604
dc.contributor.authorLatteshttp://lattes.cnpq.br/6003112490584362
dc.contributor.authorLatteshttp://lattes.cnpq.br/5831744666871099
dc.contributor.authorLatteshttp://lattes.cnpq.br/8532360349998803
dc.contributor.authorLatteshttp://lattes.cnpq.br/0529812898512530
dc.contributor.authorLatteshttp://lattes.cnpq.br/0513711533904879
dc.contributor.authorLatteshttp://lattes.cnpq.br/9202788560457272
dc.contributor.authorLatteshttp://lattes.cnpq.br/3911841387107665
dc.contributor.authorLatteshttp://lattes.cnpq.br/2151728380413759
dc.date.accessioned2023-06-29T19:22:35Z
dc.date.available2023-06-29T19:22:35Z
dc.date.issued2023-06-27
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.en
dc.description.sponsorshipCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)pt_BR
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)pt_BR
dc.description.sponsorshipID001pt_BR
dc.description.sponsorshipID2021_06180-7pt_BR
dc.identifier.doi10.3390/genes14071360pt_BR
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/68417
dc.languageeng
dc.publisherMDPIpt_BR
dc.relation.ispartofGenespt_BR
dc.rightsinfo:eu-repo/semantics/openAccesspt_BR
dc.subjectMalignant hyperthermiaen
dc.subjectRhabdomyosarcomaen
dc.subjectCentral core diseaseen
dc.subjectRyanodine receptoren
dc.subjectASPSCR1 proteinen
dc.titleRhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in RYR1 and ASPSCR1 May Play a Rolept_BR
dc.typeinfo:eu-repo/semantics/articlept_BR
unifesp.aperfeicoamentoNão se aplicapt_BR
unifesp.campusEscola Paulista de Medicina (EPM)pt_BR
unifesp.departamentoCirurgiapt_BR
unifesp.especializacaoNão se aplicapt_BR
unifesp.graduacaoMedicinapt_BR
unifesp.graduateProgramNeurologia-Neurociênciaspt_BR
unifesp.knowledgeAreaNeurologiapt_BR
unifesp.researchAreaHipertermia malignapt_BR
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