Herr Gyula, Szenes Mária, Hohl Györgyi, Vinkler Márta Erzsébet, Tüske György, Horváth János, Nagy Gyöngyi, Tihanyi Mariann, Széll Márta, Nagy Nikoletta, Gasztonyi Beáta
Belgyógyászati Osztály, Zala Megyei Kórház Zalaegerszeg, Zrínyi u. 1., 8900.
Orv Hetil. 2015 Jun 14;156(24):979-84. doi: 10.1556/650.2015.30165.
Muir-Torre syndrome is a rare genodermatosis with autosomal dominant inheritance. The syndrome is considered to be a subtype of the hereditary nonpolyposis colorectal cancer (or Lynch-syndrome). In two-third of the cases, it develops as the consequence of germline mutations in mismatch-repair genes--most commonly MutS Homolog-2 and MutL Homolog-1. Its diagnosis can be established if at least one sebaceous tumor (sebaceoma, sebaceous adenoma, epithelioma, carcinoma or basal-cell carcinoma with sebaceous differentiation) and/or keratoacanthoma and at least one internal neoplasm are present. Here the authors present the history of a 52-year-old man with multiple sebaceous carcinomas on his back. Immunohistochemical analysis showed the lack of MutL Homolog-1 protein expression in the tumor cells. Detailed clinical workup in order to identify internal malignancy found malignant coecum tumor. Histopathological evaluation of the sample from the right hemicolectomy revealed mid-grade adenocarcinoma with MutL Homolog-1 and postmeiotic segregation increased-2 deficiency. The detection of the cutaneous sebaceous carcinoma and the application of the modern diagnostic methods resulted in identification of the associated colorectal cancer in an early stage; hence, definitive treatment was available for the patient.
穆尔-托雷综合征是一种罕见的常染色体显性遗传性皮肤综合征。该综合征被认为是遗传性非息肉病性结直肠癌（或林奇综合征）的一种亚型。在三分之二的病例中，它是由错配修复基因的种系突变引起的，最常见的是MutS同源物2和MutL同源物1。如果存在至少一个皮脂腺肿瘤（皮脂腺瘤、皮脂腺腺瘤、上皮瘤、癌或具有皮脂腺分化的基底细胞癌）和/或角化棘皮瘤以及至少一个内部肿瘤，则可确立其诊断。本文作者介绍了一名52岁男性背部出现多发性皮脂腺癌的病例。免疫组化分析显示肿瘤细胞中缺乏MutL同源物1蛋白表达。为确定内部恶性肿瘤而进行的详细临床检查发现了恶性盲肠肿瘤。右半结肠切除术样本的组织病理学评估显示为中度腺癌，伴有MutL同源物1和减数分裂后分离增加-2缺陷。皮肤皮脂腺癌的检测及现代诊断方法的应用使得相关结直肠癌在早期得以确诊，从而患者能够接受确定性治疗。
