当前位置: X-MOL 学术Neuromuscul. Disord. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Myotonic dystrophy and recurrent pleomorphic adenomas: case report and association hypothesis
Neuromuscular Disorders ( IF 2.8 ) Pub Date : 2020-11-01 , DOI: 10.1016/j.nmd.2020.09.029
Ineke M J Pruijn 1 , Carla M L van Herpen 2 , Sjoert A H Pegge 3 , Adriana C H van Engen van Grunsven 4 , Marjolijn J Ligtenberg 5 , Frank J A van den Hoogen 1
Affiliation  

We report a case of a patient with concurrent myotonic dystrophy and recurrent pleomorphic adenoma and hypothesize the association between both diseases. A 58-year-old man with classic myotonic dystrophy type 1 was diagnosed with pleomorphic adenoma. Appropriate treatment was commenced. Massive recurrences occurred within 15, 28 and 22 months respectively, after repeated surgical removal. Three case reports on similar occurrences of synchronous myotonic dystrophy and pleomorphic adenoma are discussed and an association between both disease entities is hypothesized. A conceivable association between myotonic dystrophy and pleomorphic adenoma is hypothesized by upregulation of the Wnt/Beta-catenin signaling pathway, initiated by a decreased expression of microRNA, pleomorphic adenoma gene 1 induced Beta-catenin accumulations and alterations in tumor suppressor genes and oncogenes due to RNA processing defects induced by the expanded repeat in the DMPK gene.

中文翻译:

肌强直性营养不良和复发性多形性腺瘤:病例报告和关联假设

我们报告了一例同时患有肌强直性营养不良和复发性多形性腺瘤的患者,并假设这两种疾病之间存在关联。一名患有 1 型经典肌强直性营养不良的 58 岁男性被诊断出患有多形性腺瘤。开始了适当的治疗。在反复手术切除后,分别在 15、28 和 22 个月内发生了大量复发。讨论了三个关于同步性肌强直性营养不良和多形性腺瘤类似发生的病例报告,并假设了这两种疾病之间的关联。肌强直性营养不良和多形性腺瘤之间可能存在关联,假设是通过 Wnt/Beta-catenin 信号通路的上调,由 microRNA 表达降低启动,
更新日期:2020-11-01
down
wechat
bug