Nishizawa A, Nakanishi Y, Sasajima Y, Yamazaki N, Yamamoto A
Pathology Division, National Cancer Center Research Institute, Tokyo, Japan.
Am J Dermatopathol. 2006 Feb;28(1):56-9. doi: 10.1097/01.dad.0000185146.83799.24.
Muir-Torre syndrome (MTS) is an autosomal, dominantly inherited disorder characterized by sebaceous neoplasms and visceral malignancies. We report a 56-year-old woman who underwent resections of extraocular sebaceous carcinoma, sebaceous epithelioma, actinic keratosis, and keratoacanthoma (KA)-like squamous cell carcinoma (SCC) with venous invasion metachronously over a 9-year period. Because of the mixed, unusual features of the skin lesions, and her history of endometrial and colorectal cancers that had been resected 12 years and 1 year, respectively, before the present event, a possible diagnosis of Muir-Torre syndrome was suggested. Immunohistochemical studies revealed loss of hMSH2 expression in all the cutaneous lesions including the actinic keratosis, and also in the endometrial and colorectal cancers. This patient presented with intriguing squamous lesions including keratoacanthoma-like squamous cell carcinoma that showed venous invasion and actinic keratosis, and associated loss of hMSH2 expression, in addition to the sebaceous neoplasms typical of Muir-Torre syndrome.
穆尔-托雷综合征（MTS）是一种常染色体显性遗传性疾病，其特征为皮脂腺肿瘤和内脏恶性肿瘤。我们报告了一名56岁女性，在9年时间里先后同步接受了眼外皮脂腺癌、皮脂腺上皮瘤、光化性角化病以及伴有静脉侵犯的角化棘皮瘤（KA）样鳞状细胞癌（SCC）切除术。由于皮肤病变具有混合性、不寻常的特征，且她分别在此次事件发生前12年和1年接受过子宫内膜癌和结直肠癌切除术，因此提示可能诊断为穆尔-托雷综合征。免疫组化研究显示，在包括光化性角化病在内的所有皮肤病变以及子宫内膜癌和结直肠癌中，hMSH2表达均缺失。除了穆尔-托雷综合征典型的皮脂腺肿瘤外，该患者还出现了包括伴有静脉侵犯的角化棘皮瘤样鳞状细胞癌和光化性角化病在内的有趣鳞状病变，并伴有hMSH2表达缺失。
