Muir-Torre综合征的研究进展

Update of Muir-Torre syndrome

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。

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.