Muir-Torre综合征的研究进展

目的探讨近年来Muir-Torre综合征的研究进展，提高对Muir-Torre综合征的认识。方法采用文献回顾的方法，对近年来Muir-Torre综合征的临床和基因研究进展加以综述。结果Mull-Torre综合征是一种罕见的显性遗传性疾病，其特点是患者易患皮脂腺肿瘤(或多发角化棘皮瘤)和内脏恶性肿瘤。后者以胃肠道恶性肿瘤最常见(61％)，次为泌尿生殖肿瘤(22％)。大多数患者(56％)皮脂腺肿瘤在内脏恶性肿瘤之后出现。此病与遗传性非息肉病性大肠癌(HNPCC)都起因于DNA错配修复基因的种系突变，其中hMSH2基因突变多于hMLH1基因突变。Muir-Torre综合征的内脏肿瘤和皮肤肿瘤中都具有高度微卫星不稳定性(MSD的特点。结论对存在皮脂腺肿瘤(或多发角化棘皮瘤)的患者应注意寻找有无内脏恶性肿瘤，并进行定期随访，同时对患者和其家系成员应进行基因检测。当病史、临床特点、实验室检查提示Muil-Torre综合征时，首先应选择hMSH2基因测序。

Research Advance of Muir-Torre Syndrome

Objective To review recent studies on Muir Torre syndrome (MTS) and to improve the knowledge about MTS.Methods The literatures in recent years on clinic and gene research of MTS were reviewed.Results MTS was is a rare autosomal dominant disorder characterized by the predisposition to both sebaceous tumors (or multiple keratoacanthomas) and internal malignancies. Gastrointestinal cancers were the most common kind of internal malignancies in MTS patients(61%),followed by genitourinary cancers(22%). In most cases(56%),sebaceous tumors appeared after the emergence of internal maliganancy. Both hereditary nonpolyposis colorectal cancer(HNPCC) and MTS were caused by germline mutations in the DNA mismatch repair genes. MTS patients exhibit significantly more mutations in the hMSH2 than in the hMLH1. In these cases , both internal and skin tumors showed the characteristic of high microsatellite instability(MSI).Conclusion The presence of sebaceous tumors(or multiple keratoacanthomas) necessitates the search for internal malignancies. It is mandatory that patients with MTS, as patients with HNPCC, should be regularly followed up to search new malignancies. Evaluation and monitoring of the family members of patients are also necessary. The patients and their families should be counseled for genetic test. Sequencing the hMSH2 gene should be the prior selection of further examinations when clinical manifestations, history and laboratory tests suggest MTS.