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

被引：0
|
作者：
Andrade, Pamela V. [1 ]
Santos, Joilson M. [1 ]
Teixeira, Anne C. B. [2 ]
Sogari, Vanessa F. [3 ]
Almeida, Michelle S. [4 ]
Callegari, Fabiano M. [3 ]
Krepischi, Ana C. V. [2 ]
Oliveira, Acary S. B. [5 ]
Vainzof, Mariz [2 ]
Silva, Helga C. A. [1 ]
机构：
[1] Univ Fed Sao Paulo, Malignant Hyperthermia Unit, Discipline Anesthesiol Pain & Intens Care, BR-04024002 Sao Paulo, SP, Brazil
[2] Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, BR-05508090 Sao Paulo, SP, Brazil
[3] Univ Fed Sao Paulo, Dept Pathol, BR-04024002 Sao Paulo, SP, Brazil
[4] Univ Fed Sao Paulo, Dept Oncol, BR-04024002 Sao Paulo, SP, Brazil
[5] Univ Fed Sao Paulo, Dept Neurol, BR-04024002 Sao Paulo, SP, Brazil
来源：
GENES | 2023年 / 14卷 / 07期
基金：
巴西圣保罗研究基金会;
关键词：
malignant hyperthermia; rhabdomyosarcoma; central core disease; ryanodine receptor; ASPSCR1; protein; MALIGNANT HYPERTHERMIA; GRAVES-DISEASE; GUIDELINES;
D O I：
10.3390/genes14071360
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
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页数：10
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