Eda Ustaoglu, MD, University of Health Sciences, Bursa City Hospital, Dogankoy District, 16110 Nilufer, Bursa, Turkey;
Acta Dermatovenerol Croat. 2023 Dec;31(3):144-147.
Muir-Torre syndrome (MST) is a rare autosomal dominant subtype of hereditary non-polyposis colorectal carcinoma. The diagnosis is established based on the coexistence of sebaceous gland tumors and visceral organ malignancies. Mutations in the mismatch repair genes are responsible for Muir-Torre syndrome. Internal malignancies seen in MTS are most commonly colorectal, gastrointestinal system, endometrial, genitourinary system, breast, lung, brain, and hepatobiliary system malignancies. Detection of sebaceous neoplasia is essential in investigating Muir-Torre syndrome, allowing early detection of internal malignancies. Herein, we present the case of a patient with sebaceous adenomas, internal malignancies, and a new mutation detected during the genetic examination.
Muir-Torre 综合征（MST）是一种罕见的常染色体显性遗传非息肉病结直肠癌亚型。该诊断基于皮脂腺肿瘤和内脏器官恶性肿瘤的共存而确立。错配修复基因突变负责 Muir-Torre 综合征。MTS 中可见的内部恶性肿瘤最常见于结直肠、胃肠道、子宫内膜、泌尿生殖系统、乳腺、肺、脑和肝胆系统恶性肿瘤。检测皮脂腺肿瘤对于研究 Muir-Torre 综合征至关重要，可早期发现内部恶性肿瘤。在此，我们报告了一例患者，其患有皮脂腺腺瘤、内部恶性肿瘤，并在基因检测中发现了新的突变。
