Esche C, Kruse R, Lamberti C, Friedl W, Propping P, Lehmann P, Ruzicka T
Department of Dermatology, Heinrich-Heine-University, Duesseldorf, Germany.
Br J Dermatol. 1997 Jun;136(6):913-7.
We report a 62-year-old man with rectal cancer, two keratoacanthomas and multiple sebaceous adenomas, epitheliomas and sebaceous hyperplasia. His brother and father died from colorectal cancer. A subgroup of patients with the Muir-Torre syndrome (MTS) is allelic to the cancer family syndrome. This genetic disorder is caused by an autosomal dominant inherited germline mutation in one of the DNA mismatch repair genes. It is thought that a somatic mutation of the other allele leads to a genomic instability responsible for tumorigenesis. In the patient presented here the instability was detected in two characteristic skin lesions; sebaceous adenoma and epithelioma. The search for a causal germline mutation revealed a frameshift mutation in the mismatch repair gene hMSH2 leading to a truncated protein. A presymptomatic molecular diagnosis can be offered to the children of the patient.
我们报告一例62岁男性，患有直肠癌、两个角化棘皮瘤以及多发皮脂腺腺瘤、上皮瘤和皮脂腺增生。他的哥哥和父亲死于结直肠癌。穆尔-托里综合征（MTS）患者的一个亚组与癌症家族综合征等位。这种遗传性疾病由DNA错配修复基因之一的常染色体显性遗传种系突变引起。据认为，另一个等位基因的体细胞突变会导致基因组不稳定，从而引发肿瘤形成。在本文介绍的患者中，在两个特征性皮肤病变（皮脂腺腺瘤和上皮瘤）中检测到了基因组不稳定。对致病种系突变的检测发现错配修复基因hMSH2存在移码突变，导致蛋白质截短。可为该患者的子女提供症状前分子诊断。
