Malignant Hyperthermia Unit-Discipline of Anesthesiology, Pain and Intensive Care-Federal University of Sao Paulo, São Paulo 04024-002, SP, Brazil.
Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo 05508-090, SP, Brazil.
Genes (Basel). 2023 Jun 27;14(7):1360. doi: 10.3390/genes14071360.
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 () 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 and (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 variants.
横纹肌肉瘤与甲状腺疾病、皮肌炎、杜氏肌营养不良症以及肌肉营养不良症模型相关，但与 Ryanodine Receptor-1 基因 ( ) 致病性变异的患者无关。我们在此描述了一位 18 岁男性，他自述颈部有一个结节。磁共振成像显示筛窦有一个横纹肌肉瘤的肿块。由于他的父亲死于恶性高热 (MH)，因此进行了体外收缩试验，结果显示 MH 易感性阳性。活检中的肌肉组织病理学分析显示存在核心。使用 NGS 测序的分子分析确定了 和 （腺泡状软组织肉瘤）基因中的种系变异。本报告扩展了与横纹肌肉瘤相关的疾病谱，并为 变异患者的软组织肿瘤提供了可能的鉴别诊断。
