杜氏肌营养不良患者横纹肌肉瘤:一种可能的关联。

Child neurology open Pub Date : 2021-10-04 eCollection Date: 2021-01-01 DOI:10.1177/2329048X211041471
Erika Chandler, Lauren Rawson, Robert Debski, Kerry McGowan, Arpita Lakhotia
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引用次数: 3

摘要

杜氏肌营养不良症(DMD)由DMD基因突变引起,已知与心肌病、呼吸衰竭、神经肌肉侧弯和智力残疾等合并症有关。动物实验已经探索了肌营养不良蛋白缺乏小鼠对肌源性肿瘤的易感性。虽然有足够的文献分别描述DMD和横纹肌肉瘤(RMS),但尚未有全面的文献综述调查DMD患者发生RMS和其他肌源性肿瘤的风险是否更高。我们报告了一名患有DMD的儿童患者,他发展为肺泡性RMS,并回顾了DMD基因突变病例中肌源性肿瘤易感性的文献。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Rhabdomyosarcoma in a Patient With Duchenne Muscular Dystrophy: A Possible Association.

Rhabdomyosarcoma in a Patient With Duchenne Muscular Dystrophy: A Possible Association.

Rhabdomyosarcoma in a Patient With Duchenne Muscular Dystrophy: A Possible Association.

Rhabdomyosarcoma in a Patient With Duchenne Muscular Dystrophy: A Possible Association.

Duchenne muscular dystrophy (DMD), caused by a mutation in the DMD gene, is known to be associated with co-morbidities including cardiomyopathy, respiratory failure, neuromuscular scoliosis and intellectual disability. Animal studies have explored the susceptibility of dystrophin-deficient mice with the development of myogenic tumors. While there is adequate literature describing both DMD and rhabdomyosarcoma (RMS) separately, there has yet to be a comprehensive literature review investigating the possibility that patients with DMD may be at a higher risk of developing RMS and other myogenic tumors. We present the case of a pediatric patient with DMD who developed alveolar RMS and review the literature for susceptibility to development of myogenic tumors in cases of DMD gene mutation.

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