患有 MSH2 基因新型突变的 Muir-Torre 综合征。

Eda Ustaoglu, Senay Agirgol, Huri Sema Aymelek, Ezgi Isil Turhan
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摘要

穆尔-托雷综合征(Muir-Torre Syndrome,MST)是遗传性非息肉病结直肠癌的一种罕见常染色体显性亚型。其诊断依据是皮脂腺肿瘤和内脏器官恶性肿瘤同时存在。错配修复基因突变是导致穆尔-托雷综合征的原因。MTS 中最常见的内脏恶性肿瘤是结直肠、胃肠系统、子宫内膜、泌尿生殖系统、乳腺、肺、脑和肝胆系统恶性肿瘤。皮脂腺肿瘤的检测对调查穆尔-托雷综合征至关重要,可及早发现体内恶性肿瘤。在此,我们介绍一例患有皮脂腺瘤、体内恶性肿瘤以及在基因检查中发现新突变的患者。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Muir-Torre Syndrome with Novel Mutation in the MSH2 Gene.

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.

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