Department of Cellular Pathology, University Hospitals Southampton NHS Foundation Trust, Southampton, UK.
Histopathology. 2021 Aug;79(2):128-138. doi: 10.1111/his.14367. Epub 2021 May 19.
DNA mismatch repair (MMR) is an essential physiological process for correcting mutations occurring during DNA replication. Deficient MMR (dMMR) leads to increased tumour mutational burden, with a heightened risk of neoplasia. Demonstration of dMMR via the immunohistochemical assessment of MMR proteins is useful when screening for inherited cancer syndromes (especially Lynch syndrome) and for the prediction of clinical cancer response to conventional chemotherapy and novel immunotherapies. Identification of dMMR may also be helpful in other situations e.g. when considering a diagnosis of conventional dysplasia in sessile serrated lesions of the large intestine. This article provides a practical illustrated guide to DNA MMR interpretation, using a series of clinical examples.
DNA 错配修复（MMR）是纠正 DNA 复制过程中发生的突变的重要生理过程。MMR 缺陷（dMMR）导致肿瘤突变负担增加，增加了发生肿瘤的风险。通过免疫组织化学评估 MMR 蛋白来检测 dMMR，在筛查遗传性癌症综合征（尤其是林奇综合征）和预测癌症对常规化疗和新型免疫疗法的临床反应时非常有用。在其他情况下，如在考虑大肠固有型锯齿状病变的常规发育不良的诊断时，识别 dMMR 也可能会有所帮助。本文使用一系列临床实例，提供了一个实用的 DNA MMR 解读示意图指南。
