{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,24]],"date-time":"2025-12-24T12:44:08Z","timestamp":1766580248280,"version":"build-2065373602"},"reference-count":30,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2023,6,27]],"date-time":"2023-06-27T00:00:00Z","timestamp":1687824000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Coordenac\u0327\u00e3o de Aperfeic\u0327oamento de Pessoal de N\u00edvel Superior\u2014Brasil (CAPES)","award":["Finance Code 001","2013\/08028-1"],"award-info":[{"award-number":["Finance Code 001","2013\/08028-1"]}]},{"name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo (FAPESP)","award":["Finance Code 001","2013\/08028-1"],"award-info":[{"award-number":["Finance Code 001","2013\/08028-1"]}]},{"DOI":"10.13039\/501100001807","name":"FAPESP-CEPID","doi-asserted-by":"publisher","award":["Finance Code 001","2013\/08028-1"],"award-info":[{"award-number":["Finance Code 001","2013\/08028-1"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.3390\/genes14071360","type":"journal-article","created":{"date-parts":[[2023,6,28]],"date-time":"2023-06-28T00:33:07Z","timestamp":1687912387000},"page":"1360","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Rhabdomyosarcoma Associated with Core Myopathy\/Malignant Hyperthermia: Combined Effect of Germline Variants in RYR1 and ASPSCR1 May Play a Role"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1095-4807","authenticated-orcid":false,"given":"Pamela","family":"Andrade","sequence":"first","affiliation":[{"name":"Malignant Hyperthermia Unit\u2014Discipline of Anesthesiology, Pain and Intensive Care\u2014Federal University of Sao Paulo, S\u00e3o Paulo 04024-002, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joilson","family":"Santos","sequence":"additional","affiliation":[{"name":"Malignant Hyperthermia Unit\u2014Discipline of Anesthesiology, Pain and Intensive Care\u2014Federal University of Sao Paulo, S\u00e3o Paulo 04024-002, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5079-6295","authenticated-orcid":false,"given":"Anne","family":"Teixeira","sequence":"additional","affiliation":[{"name":"Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of S\u00e3o Paulo, S\u00e3o Paulo 05508-090, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanessa","family":"Sogari","sequence":"additional","affiliation":[{"name":"Department of Pathology, Federal University of Sao Paulo, S\u00e3o Paulo 04024-002, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle","family":"Almeida","sequence":"additional","affiliation":[{"name":"Department of Oncology, Federal University of Sao Paulo, S\u00e3o Paulo 04024-002, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabiano","family":"Callegari","sequence":"additional","affiliation":[{"name":"Department of Pathology, Federal University of Sao Paulo, S\u00e3o Paulo 04024-002, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2931-8605","authenticated-orcid":false,"given":"Ana","family":"Krepischi","sequence":"additional","affiliation":[{"name":"Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of S\u00e3o Paulo, S\u00e3o Paulo 05508-090, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Acary","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Department of Neurology, Federal University of Sao Paulo, S\u00e3o Paulo 04024-002, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2797-0782","authenticated-orcid":false,"given":"Mariz","family":"Vainzof","sequence":"additional","affiliation":[{"name":"Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of S\u00e3o Paulo, S\u00e3o Paulo 05508-090, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helga","family":"Silva","sequence":"additional","affiliation":[{"name":"Malignant Hyperthermia Unit\u2014Discipline of Anesthesiology, Pain and Intensive Care\u2014Federal University of Sao Paulo, S\u00e3o Paulo 04024-002, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,6,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1016\/j.molmed.2013.07.001","article-title":"Muscular dystrophies share pathogenetic mechanisms with muscle sarcomas","volume":"19","author":"Fanzani","year":"2013","journal-title":"Trends Mol. 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