• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Cancer causes and control: CCC >Hypothesis: Neoplasms in myotonic dystrophy
【24h】

Hypothesis: Neoplasms in myotonic dystrophy

机译：假设：强直性肌营养不良的肿瘤

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Tumorigenesis is a multi-step process due to an accumulation of genetic mutations in multiple genes in diverse pathways which ultimately lead to loss of control over cell growth. It is well known that inheritance of rare germline mutations in genes involved in tumorigenesis pathways confer high lifetime risk of neoplasia in affected individuals. Furthermore, a substantial number of multiple malformation syndromes include cancer susceptibility in their phenotype. Studies of the mechanisms underlying these inherited syndromes have added to the understanding of both normal development and the pathophysiology of carcinogenesis. Myotonic dystrophy (DM) represents a group of autosomal dominant, multisystemic diseases that share the clinical features of myotonia, muscle weakness, and early-onset cataracts. Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) result from unstable nucleotide repeat expansions in their respective genes. There have been multiple reports of tumors in individuals with DM, most commonly benign calcifying cutaneous tumors known as pilomatricomas. We provide a summary of the tumors reported in DM and a hypothesis for a possible mechanism of tumorigenesis. We hope to stimulate further study into the potential role of DM genes in tumorigenesis, and help define DM pathogenesis, and facilitate developing novel treatment modalities.
机译：肿瘤发生是一个多步骤的过程，这是由于多种途径中多个基因的遗传突变积累，最终导致失去对细胞生长的控制。众所周知，在涉及肿瘤发生途径的基因中稀有种系突变的遗传赋予了患病个体终身生瘤的高风险。此外，大量的多种畸形综合症在其表型中包括癌症易感性。对这些遗传综合征的潜在机制的研究增加了对正常发育和致癌机理的认识。肌强直性营养不良（DM）代表了一组常染色体显性遗传性，多系统性疾病，它们具有肌强直，肌肉无力和早发性白内障的临床特征。 1型肌强直性营养不良（DM1）和2型强直性营养不良（DM2）是由于它们各自基因中不稳定的核苷酸重复序列扩增引起的。有多种关于DM患者的肿瘤的报道，最常见的是良性钙化性皮肤肿瘤，称为pilomatricomas。我们提供了DM中报道的肿瘤的摘要以及关于肿瘤发生的可能机制的假设。我们希望促进对DM基因在肿瘤发生中的潜在作用的进一步研究，并帮助定义DM发病机制，并促进开发新的治疗方式。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号