Department of Dermatology, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
J Am Acad Dermatol. 2011 Nov;65(5):1054-1058.e1. doi: 10.1016/j.jaad.2010.08.003. Epub 2011 May 6.
Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis caused by mutations in the DNA mismatch repair genes MLH1 and MSH2. This case describes a patient with an extensive family history of colon cancer who experienced the onset of multiple sebaceous adenomas and carcinomas after undergoing kidney transplantation and receiving immunosuppressive therapy. The finding of deficient MSH2 expression in the immunohistochemical analysis of a sebaceous carcinoma prompted genetic testing for a systemic mutation in the mismatch repair gene. A systemic mutation of the MSH2 gene was detected and, despite the absence of a visceral malignancy, the diagnosis of MTS was made. Immunosuppression has previously been thought to play a possible role in unmasking a latent MTS phenotype in transplant recipients, but systemic mutations have not previously been analyzed. The relationship between immunosuppression and sebaceous tumors with the possibility of unmasking a MTS phenotype in transplant recipients is discussed.
穆尔- Torre 综合征（MTS）是一种常染色体显性遗传的皮肤疾病，由 DNA 错配修复基因 MLH1 和 MSH2 的突变引起。本病例描述了一位有广泛结肠癌家族史的患者，他在接受肾移植和免疫抑制治疗后，开始出现多个皮脂腺腺瘤和癌。免疫组化分析发现皮脂腺癌中 MSH2 表达缺失，促使对错配修复基因进行系统突变检测。检测到 MSH2 基因的系统突变，尽管没有内脏恶性肿瘤，但仍诊断为 MTS。先前认为免疫抑制可能在移植受者中揭示潜伏的 MTS 表型方面发挥作用，但以前并未分析系统突变。讨论了免疫抑制与皮脂腺肿瘤之间的关系，以及免疫抑制在移植受者中揭示 MTS 表型的可能性。
