Eshleman J R, Markowitz S D
University Hospitals of Cleveland, Ohio.
Curr Opin Oncol. 1995 Jan;7(1):83-9.
Microsatellite instability (the replication error phenotype) is a new molecular assay that identifies a substantial fraction of human cancers. The microsatellite instability in these cancers arises from alterations in the tumors of the number of mono-, di-, and trinucleotide repeats that compose the microsatellites. Microsatellite instability is typical of colon and endometrial tumors arising in members of Lynch syndrome cancer families. Microsatellite instability is also found in a substantial percentage of sporadic cases of colon, endometrial, and gastric cancer, as well as in additional sporadic cancers, such as lung cancer, not usually seen in Lynch kindreds. Thus far, four different mutant genes, all homologous to bacterial DNA repair genes, have been identified as inherited in Lynch kindreds, and therefore are associated with the replication error phenotype. Clinical implications of the replication error phenotype include the demonstration that resistance to some alkylating agents appears to be directly altered in tumors with this phenotype.
微卫星不稳定性（复制错误表型）是一种新的分子检测方法，可识别相当一部分人类癌症。这些癌症中的微卫星不稳定性源于构成微卫星的单核苷酸、二核苷酸和三核苷酸重复序列数量在肿瘤中的改变。微卫星不稳定性是林奇综合征癌症家族成员发生的结肠癌和子宫内膜癌的典型特征。在相当比例的散发性结肠癌、子宫内膜癌和胃癌病例中也发现了微卫星不稳定性，以及在林奇家族中通常未见的其他散发性癌症（如肺癌）中也有发现。到目前为止，已鉴定出四个不同的突变基因，它们均与细菌DNA修复基因同源，在林奇家族中呈遗传性，因此与复制错误表型相关。复制错误表型的临床意义包括表明具有这种表型的肿瘤对某些烷化剂的耐药性似乎直接改变。
