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免疫抑制后继发新发皮肤皮脂腺肿瘤的患者应进行种系错配修复基因突变分析以评估 Muir-Torre 综合征:病例报告。

Patients with a new-onset cutaneous sebaceous neoplasm following immunosuppression should be evaluated for Muir-Torre syndrome with germline mismatch repair gene mutation analysis: case reports.

机构信息

Department of Dermatology, University of California Davis Health, Sacramento, California, USA Touro University California College of Osteopathic Medicine, Vallejo, California, USA.

出版信息

Dermatol Online J. 2024 Mar 15;30(1). doi: 10.5070/D330163287.

DOI:10.5070/D330163287
PMID:38762859
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肿瘤,如腺瘤、上皮瘤和/或癌。该综合征通常是由于一个或多个错配修复基因的种系突变引起的。医源性或获得性免疫抑制会促进皮脂肿瘤的出现,无论是作为孤立事件还是作为 Muir-Torre 综合征的特征,并且可能会揭示出易患该综合征的个体。描述了两名患有 Muir-Torre 综合征特征的医源性免疫抑制男性。与这些免疫抑制男性相似,Muir-Torre 综合征相关的皮脂肿瘤也发生在实体器官移植受者、人类免疫缺陷病毒感染个体以及接受免疫抑制药物治疗的慢性疾病患者中。与接受肝移植的患者相比,接受更多移植后免疫抑制药物的肾移植受者中,Muir-Torre 综合征相关的皮脂肿瘤发生更频繁且更早。用西罗莫司或依维莫司替代环孢素或他克莫司可降低皮脂肿瘤的发生。特定的抗癌疫苗或检查点阻断免疫疗法可能值得探索用于免疫阻断 Muir-Torre 综合征相关的皮脂肿瘤和综合征相关内脏癌症。我们建议对所有发生 Muir-Torre 综合征相关皮脂肿瘤的患者(包括免疫功能正常和免疫抑制的患者)进行种系检测,以检测错配修复基因的基因组异常。

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