Bagga Ekta, Innes David, Leung Edmund
Department of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.
Taranaki Pathology Services, New Plymouth, Taranaki, New Zealand.
Arch Clin Cases. 2023 Sep 20;10(3):119-122. doi: 10.22551/2023.40.1003.10255. eCollection 2023.
Muir-Torre Syndrome (MTS) is associated with multiple visceral malignancies. Initial presentation may be a benign skin tumor mimicking a sebaceous cyst. This case report highlights the importance of early diagnosis, genetic testing, and multidisciplinary screening. A 67-year-old man was diagnosed with MTS following excision of a skin lesion (sebaceoma). He was declined both screening colonoscopy and genetic testing. Subsequently, advanced colon cancer was found following presentation with iron deficiency anemia, which ultimately led to palliation despite successful surgery. MTS can present insidiously with skin lesions clinically diagnosed as sebaceous cysts. Once MTS is suspected on histology, genetic testing and screening for MTS-related cancers is warranted. Better understanding of the genetic variants for MTS can aid in earlier diagnosis thus not dismissing the need for screening for MTS-related cancers.
穆尔-托雷综合征（MTS）与多种内脏恶性肿瘤相关。最初的表现可能是类似皮脂腺囊肿的良性皮肤肿瘤。本病例报告强调了早期诊断、基因检测和多学科筛查的重要性。一名67岁男性在切除皮肤病变（皮脂腺瘤）后被诊断为MTS。他既拒绝了结肠镜筛查，也拒绝了基因检测。随后，在出现缺铁性贫血后发现了晚期结肠癌，尽管手术成功，但最终仍导致了病情缓解。MTS可能以临床上诊断为皮脂腺囊肿的皮肤病变隐匿出现。一旦在组织学上怀疑MTS，就有必要进行基因检测和筛查与MTS相关的癌症。更好地了解MTS的基因变异有助于早期诊断，因此不能忽视对与MTS相关癌症进行筛查的必要性。
