中国麻风皮肤病杂志 ›› 2017, Vol. 33 ›› Issue (8): 510-512.

• 综述 • 上一篇    

Muir-Torre综合征的研究进展

孙献琪  栗玉珍   

  1. 黑龙江省哈尔滨市哈尔滨医科大学附属第二医院皮肤科，哈尔滨，150081
  • 出版日期:2017-08-15 发布日期:2018-12-05
  • 通讯作者: 孙献琪, E-mail: sunxianqi1990@163.com

Update of Muir-Torre syndrome

SUN Xianqi, LI Yuzhen.   

  1. Department of Dermatology, the Second Affiliated Hospital, Haerbin Medical University, Haerbin 150081, China
  • Online:2017-08-15 Published:2018-12-05
  • Contact: SUN Xianqi, E-mail: sunxianqi1990@163.com

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摘要： Muir-Torre综合征(MTS)是一种罕见的遗传性疾病，本病的发生与DNA错配修复的种系突变相关。临床表现为皮肤肿瘤(以皮脂腺腺瘤多见)和内脏恶性肿瘤（以胃肠道恶性肿瘤多见）。免疫组化和基因检测是本病的常用诊断方法。确诊后需要进行手术治疗及化学治疗。

关键词: Muir-Torre综合征, 皮脂腺肿瘤, 微卫星不稳定性

Abstract: Muir-Torre syndrome (MTS) is a rare genetic entity. The occurrence of the disease is associated with the germline mutations in the DNA mismatch repair. Clinical manifestations include skin tumor (mainly being sebaceous adenoma) and internal malignancy (mainly being gastrointestinal malignant tumors). Immunohistochemical and genetic tests are diagnostic. The patients need to be treated with surgery and chemical treatment after diagnosis.

Key words: Muir-Torre syndrome, sebaceous neoplasms, microsatellite instability