Honchel R, Halling K C, Thibodeau S N
Department of Laboratory Medicine and Pathology, Mayo Clinic Foundation, Rochester, MN 55905, USA.
Semin Cell Biol. 1995 Feb;6(1):45-52. doi: 10.1016/1043-4682(95)90014-4.
Recent studies have demonstrated novel alterations of microsatellite DNA in tumor tissue. The alterations, termed microsatellite instability or replication error phenotype, have now been observed in tumors from patients with hereditary nonpolyposis colorectal cancer (HNPCC), the Muir-Torre syndrome (MTS) and in an increasing number of sporadic tumors. These observations, along with the use of genetic linkage analysis, have led to the identification of at least four genetic susceptibility loci for HNPCC, hMSH2, hMLH1, hPMS1 and hPMS2, each of which are involved in DNA mismatch repair. For those tumors demonstrating microsatellite instability, several different phenotypes may exist, the significance of which is currently unknown. Defective DNA mismatch repair may have important implications for the mechanism of tumorigenesis and the clinical behavior of tumors.
最近的研究表明肿瘤组织中微卫星DNA存在新的改变。这些改变被称为微卫星不稳定性或复制错误表型，目前已在遗传性非息肉病性结直肠癌（HNPCC）、穆尔-托雷综合征（MTS）患者的肿瘤以及越来越多的散发性肿瘤中观察到。这些观察结果以及基因连锁分析的应用，已导致至少鉴定出HNPCC的四个遗传易感位点，即hMSH2、hMLH1、hPMS1和hPMS2，每个位点都参与DNA错配修复。对于那些表现出微卫星不稳定性的肿瘤，可能存在几种不同的表型，其意义目前尚不清楚。DNA错配修复缺陷可能对肿瘤发生机制和肿瘤的临床行为具有重要意义。
