Bacha Dhouha, Deschamps Lydia, Sauvanet Alain, Couvelard Anne
Service d'anatomie pathologique, hôpital Beaujon, 92110 Clichy, France.
Ann Pathol. 2009 Dec;29(6):495-8. doi: 10.1016/j.annpat.2009.10.021.
Muir-Torre syndrome, a rare autosomal dominant inherited disease, is characterized by the synchronous or metachronous occurrence of at least one sebaceous gland neoplasia such as an adenoma or carcinoma, with or without keratoacanthoma, and at least one internal malignancy, mostly colorectal cancer. Visceral malignant neoplasms seem to be less aggressive than their sporadic counterparts. Muir-Torre syndrome has been recognised as a subset of Lynch's syndrome, with similar microsatellite instability and germline mutations in DNA mismatch repair (MMR) genes mainly in MSH2 and/or MLH1. We report the case of a 60-year-old man with a Muir-Torre syndrome, presenting an indolent poorly differentiated duodenal carcinoma. Immunohistochemical analysis revealed the loss of expression of MSH2 and MSH6 proteins in tumor cells. According to medical literature, only 16 cases of Muir-Torre syndrome with small bowel carcinoma have been reported to date.
穆尔-托雷综合征是一种罕见的常染色体显性遗传病，其特征是至少出现一个皮脂腺肿瘤（如腺瘤或癌），伴或不伴角化棘皮瘤，且至少出现一种内脏恶性肿瘤，多数为结直肠癌，可同时或异时发生。内脏恶性肿瘤似乎比散发性肿瘤侵袭性小。穆尔-托雷综合征已被确认为林奇综合征的一个亚型，具有相似的微卫星不稳定性以及主要在MSH2和/或MLH1基因中的DNA错配修复（MMR）基因种系突变。我们报告了一例60岁患有穆尔-托雷综合征的男性病例，该患者患有惰性低分化十二指肠癌。免疫组化分析显示肿瘤细胞中MSH2和MSH6蛋白表达缺失。据医学文献报道，迄今为止，仅有16例穆尔-托雷综合征合并小肠癌的病例。
