Rhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in RYR1 and ASPSCR1 May Play a Role
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2023-06-27
Autores
Silva, Helga Cristina Almeida da 
Andrade, Pâmela Vieira de
Santos, Joilson Moura dos
Sogari, Vanessa Fante
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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.