背景: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增加发生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。发生这些类型肿瘤的风险取决于所涉及的突变和个体的家族史风险。
方法:一名47岁男性,头皮上有多处皮肤损伤,脸,侧翼,和回来。检查显示界限有限,圆顶状丘疹,外观淡黄色,中心有白色油性物质。组织病理学检查显示,界限清楚的皮脂腺肿瘤,与碱性细胞和淡淡的成熟脂肪细胞的小叶的混合物一致,直接与表面上皮连通。注意到局灶性囊性改变和肿瘤周围淋巴细胞浸润。在基底细胞成分中发现有丝分裂图增加。总体发现与SAs的诊断一致。MMR染色显示MLH1和PMS2蛋白保留表达,而MSH2和MSH6染色显示蛋白表达缺失。筛查结肠镜检查显示许多结肠和直肠肿瘤,引发了人们对MTS可能性的担忧。进行手术干预以完全切除。组织学显示诊断为粘液腺癌/腺癌,具有结肠粘液性特征。MTS的诊断得到了显示MSH2种系突变的分子测试的支持。MTS的可能性增加归因于在头部和颈部区域的异常位置发生SAs,与典型案例不同。
结论:MTS是一种罕见的临床病症,需要及时进行全面评估和定期监测。当在非典型位置遇到SA时,重要的是要考虑由免疫组织化学染色支持的额外测试,分子检测,定期筛查以排除MTS的可能性。
BACKGROUND: 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.
METHODS: 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.
CONCLUSIONS: 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.