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
{"title":"杜氏肌营养不良患者横纹肌肉瘤:一种可能的关联。","authors":"Erika Chandler,&nbsp;Lauren Rawson,&nbsp;Robert Debski,&nbsp;Kerry McGowan,&nbsp;Arpita Lakhotia","doi":"10.1177/2329048X211041471","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"8 ","pages":"2329048X211041471"},"PeriodicalIF":0.0000,"publicationDate":"2021-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/94/f8/10.1177_2329048X211041471.PMC8600378.pdf","citationCount":"3","resultStr":"{\"title\":\"Rhabdomyosarcoma in a Patient With Duchenne Muscular Dystrophy: A Possible Association.\",\"authors\":\"Erika Chandler,&nbsp;Lauren Rawson,&nbsp;Robert Debski,&nbsp;Kerry McGowan,&nbsp;Arpita Lakhotia\",\"doi\":\"10.1177/2329048X211041471\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":72572,\"journal\":{\"name\":\"Child neurology open\",\"volume\":\"8 \",\"pages\":\"2329048X211041471\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-10-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/94/f8/10.1177_2329048X211041471.PMC8600378.pdf\",\"citationCount\":\"3\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Child neurology open\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1177/2329048X211041471\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2021/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Child neurology open","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/2329048X211041471","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2021/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
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。

摘要图片

摘要图片

摘要图片

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
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.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
审稿时长
15 weeks
期刊最新文献
Corrigendum to "Refractory Jeavons Syndrome from Birth Symptomatic to PLCB1 Mutation". Recurrent Spinal Arteriovenous Malformations in a Patient with Cobb Syndrome. “Oh My Sleeping Child” … Narcolepsy Type 1 in a 22-Month-Old Boy Cortical Hand Knob Paradoxical Thromboembolic Stroke in an Adolescent with Secundum Atrial Septal Defect and Paget-Schroetter Syndrome A Severe Case of Streptococcus pneumoniae Meningoencephalitis in an Infant Resulting in Fatal Strokes
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1