Department of Pathology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.
J Surg Oncol. 2023 Dec;128(8):1380-1384. doi: 10.1002/jso.27440. Epub 2023 Sep 14.
Muir-Torre syndrome (MTS) is a rare genetic disorder that is caused by mismatch repair (MMR) protein mutations. MTS increases the risk of developing skin and gastrointestinal tumors such as sebaceous adenomas (SAs), sebaceous carcinomas, colorectal cancer, endometrial cancer, and ovarian cancer. The risk of developing these types of tumors varies depending on the involved mutation and the individual's family history risk.
A 47-year-old male presented with multiple skin lesions on the scalp, face, flank, and back. The examination revealed well-circumscribed, dome-shaped papules with a yellowish appearance with white oily material in the center. Histopathologic examination showed a well-circumscribed sebaceous neoplasm consistent with a mixture of basaloid cells and lobules of bland-appearing mature adipocytes that communicate directly to the surface epithelium. Focal cystic changes and peritumoral lymphocytic infiltrate were noted. Increased mitotic figures were seen in the basaloid cell component. The overall findings were consistent with the diagnosis of SAs. MMR staining showed preserved expression in MLH1 and PMS2 proteins, while MSH2 and MSH6 staining showed loss of protein expression. A screening colonoscopy showed numerous colon and rectal tumors, prompting concerns about the likelihood of MTS. Surgical intervention was pursued for complete resection. Histology revealed a diagnosis of mucinous adenocarcinoma/adenocarcinoma with mucinous features of the colon. The diagnosis of MTS was supported by molecular testing that revealed MSH2 germline mutation. The increased likelihood of MTS was attributed to the occurrence of SAs in unusual locations of the head and neck regions, unlike typical cases.
MTS is a rare clinical condition that necessitates prompt thorough evaluation and periodic surveillance. When SA is encountered in atypical locations, it is important to consider additional testing supported by immunohistochemical staining, molecular testing, and regular screening to exclude the likelihood of MTS.
Muir-Torre 综合征（MTS）是一种罕见的遗传性疾病，由错配修复（MMR）蛋白突变引起。MTS 增加了皮肤和胃肠道肿瘤的风险，如皮脂腺腺瘤（SAs）、皮脂腺癌、结直肠癌、子宫内膜癌和卵巢癌。这些类型肿瘤的发病风险取决于所涉及的突变和个体的家族史风险。
一名 47 岁男性，因头皮、面部、侧腹和背部出现多个皮肤病变就诊。检查发现边界清楚的圆形丘疹，呈黄色，中央有白色油性物质。组织病理学检查显示边界清楚的皮脂腺肿瘤，由基底样细胞和界限清楚的成熟脂肪细胞小叶混合而成，直接与表面上皮相通。可见局灶性囊性改变和肿瘤周围淋巴细胞浸润。基底样细胞成分中可见有丝分裂象增多。MMR 染色显示 MLH1 和 PMS2 蛋白表达保存，而 MSH2 和 MSH6 染色显示蛋白表达缺失。筛查性结肠镜检查显示结肠和直肠有多个肿瘤，提示可能存在 MTS。为了进行完全切除，进行了手术干预。组织学显示结肠黏液腺癌/腺癌伴黏液特征的诊断。分子检测证实 MSH2 种系突变，支持 MTS 的诊断。MTS 的发生几率增加归因于头部和颈部区域不常见位置的 SAs 的发生，这与典型病例不同。
MTS 是一种罕见的临床情况，需要及时进行全面评估和定期监测。当在不典型位置遇到 SAs 时，重要的是要考虑额外的测试，这些测试通过免疫组织化学染色、分子测试和定期筛查来支持，以排除 MTS 的可能性。
