Muir-Torre综合征：在更广泛的恶性肿瘤中发现皮肤病
Muir-Torre Syndrome: A Cutaneous Finding Amidst Broader Malignancies
影响因子:8.80000
分区:医学1区 Top / 皮肤病学1区
发表日期:2023 May
作者:
Rohan R Shah, Priscilla Allman, Robert A Schwartz
摘要
Muir-torre综合征（MTS）是由微卫星不稳定性引起的罕见常染色体显性遗传疾病，这是由DNA不匹配修复基因突变引起的。这种疾病使个体容易受到皮肤肿瘤和内脏恶性肿瘤的影响，并且在免疫功能低下或移植患者中可能会沉淀。 MTS需要对患者和家庭进行密切的癌症监测，因为倾向于发展侵略性的内部恶性肿瘤和皮脂腺癌。免疫组织化学和 /或基因检测可以确认MT的诊断。这篇评论提供了MTS的指南，诊断和管理的更新，同时提供了有关重要但鲜为人知的综合征的独特观点。
Abstract
Muir-Torre syndrome (MTS) is a rare autosomal dominant genetic condition resulting from microsatellite instability which is caused by mutations in DNA mismatch repair genes. This disorder predisposes individuals to skin tumors and visceral malignancies and may be precipitated in immunocompromised or transplant patients. MTS requires close cancer surveillance for the patient and family because of the tendency to develop aggressive internal malignancies and sebaceous carcinoma. Immunohistochemistry and or genetic testing can confirm the diagnosis of MTS. This review offers an update to the guidelines, diagnosis, and management of MTS while offering a unique perspective on an important but lesser-known syndrome.