Abstract：
Patients with Muir-Torre syndrome may have a systemic malignancy and a sebaceous neoplasm such as an adenoma, epithelioma, and/or carcinoma. The syndrome usually results from a germline mutation in one or more mismatch repair genes. Iatrogenic or acquired immunosuppression can promote the appearance of sebaceous tumors, either as an isolated event or as a feature of Muir-Torre syndrome and may unmask individuals genetically predisposed to the syndrome. Two iatrogenically immunosuppressed men with Muir-Torre syndrome features are described. Similar to these immunocompromised men, Muir-Torre syndrome-associated sebaceous neoplasms have occurred in solid organ transplant recipients, human immunodeficiency virus-infected individuals, and patients with chronic diseases who are treated with immunosuppressive agents. Muir-Torre syndrome-associated sebaceous neoplasms occur more frequently and earlier in kidney recipients, who are receiving more post-transplant immunosuppressive agents, than in liver recipients. The development of sebaceous neoplasms is decreased by replacing cyclosporine or tacrolimus with sirolimus or everolimus. Specific anti-cancer vaccines or checkpoint blockade immunotherapy may merit exploration for immune-interception of Muir-Torre syndrome-associated sebaceous neoplasms and syndrome-related visceral cancers. We suggest germline testing for genomic aberrations of mismatch repair genes should routinely be performed in all patients-both immunocompetent and immunosuppressed-who develop a Muir-Torre syndrome-associated sebaceous neoplasm.
摘要：
患有Muir-Torre综合征的患者可能患有全身性恶性肿瘤和皮脂腺肿瘤，例如腺瘤，上皮瘤,和/或癌。该综合征通常由一个或多个错配修复基因中的种系突变引起。医源性或获得性免疫抑制可以促进皮脂腺肿瘤的出现，既可以作为孤立事件,也可以作为Muir-Torre综合征的一个特征,并且可以揭开遗传易患该综合征的个体的面纱。描述了两名具有Muir-Torre综合征特征的医源性免疫抑制男性。类似于这些免疫功能低下的男性，Muir-Torre综合征相关皮脂腺肿瘤发生于实体器官移植受者,人类免疫缺陷病毒感染的个体，以及接受免疫抑制剂治疗的慢性病患者。Muir-Torre综合征相关皮脂腺肿瘤在肾脏受者中更频繁和更早发生，接受更多移植后免疫抑制剂的人，而不是肝脏接受者。通过用西罗莫司或依维莫司代替环孢菌素或他克莫司减少皮脂腺肿瘤的发展。特异性抗癌疫苗或检查点阻断免疫疗法可能值得探索Muir-Torre综合征相关皮脂腺肿瘤和综合征相关内脏癌症的免疫拦截。我们建议，对于所有患有Muir-Torre综合征相关皮脂腺肿瘤的患者，无论是免疫活性的还是免疫抑制的患者，都应常规进行错配修复基因基因组畸变的种系测试。
