Cancer Research UK Clinical Centre, Cancer Sciences Division, School of Medicine, Somers Cancer Research Building (MP824), University of Southampton, Southampton General Hospital, Southampton SO16 6YD, UK.
Fam Cancer. 2009;8(4):359-62. doi: 10.1007/s10689-009-9247-7. Epub 2009 May 16.
The eponymous Muir-Torre syndrome (MTS) is a clinical variant of hereditary non polyposis colorectal cancer, and is defined as an autosomal dominant condition with simultaneous sebaceous neoplasms of the skin and visceral malignant disease resulting from germline mutations in the DNA mismatch repair (MMR) genes. To date the most common visceral malignancy described is colorectal cancer, which is seen in approximately 50% of cases. Other clearly associated tumours include endometrial adenocarcinomas, urothelial transitional cell carcinomas, upper gastrointestinal adenocarcinomas, sebaceous adenomas and ovarian (often mucinous) carcinomas. Here we report the first recorded case of adenocarcinoma of the lung with loss of MMR gene function to be identified in a patient with MTS. The MMR deficient lung tumour demonstrated less aggressive clinical behaviour compared with a synchronous MMR proficient lung adenocarcinoma.
同义综合征（MTS）是以常染色体显性遗传方式遗传的非息肉病性结直肠癌的一种临床变异型，其定义为同时具有皮肤的皮脂腺肿瘤和内脏恶性疾病，由错配修复（MMR）基因突变引起。迄今为止，描述最多的内脏恶性肿瘤是结直肠癌，约占病例的 50%。其他明确相关的肿瘤包括子宫内膜腺癌、尿路上皮移行细胞癌、上消化道腺癌、皮脂腺腺瘤和卵巢（常为黏液性）癌。在此，我们报告首例 MTS 患者中 MMR 基因功能丧失的肺腺癌。与同时具有 MMR 功能正常的肺腺癌相比，MMR 缺陷的肺肿瘤表现出侵袭性更小的临床行为。
