Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Histopathology. 2021 Mar;78(4):485-497. doi: 10.1111/his.14271. Epub 2020 Dec 4.
Microsatellite instability (MSI) as a distinct molecular phenotype in human neoplasms was first recognised in 1993. Since then there has been tremendous progress in our understanding of this phenotype, including its genomic drivers and functional consequences. Currently, the multiple lines of investigation on MSI seem to have converged upon one important facet: its diversity, both genotypically and phenotypically, and both within and across tumour types. This review article offers a pathologist's perspective on our current understanding of this diversity, and highlights its potentially significant impact on the effective use of our current MSI detection tools: PCR- or sequencing-based MSI testing and mismatch repair protein immunohistochemistry.
微卫星不稳定性（MSI）作为人类肿瘤中一种独特的分子表型，于 1993 年首次被认识。自那时以来，我们对这种表型的理解取得了巨大的进展，包括其基因组驱动因素和功能后果。目前，对 MSI 的多种研究似乎都集中在一个重要方面：其在基因型和表型上的多样性，以及在肿瘤内和肿瘤间的多样性。这篇综述文章提供了病理学家对这种多样性的理解，并强调了其对有效使用我们当前的 MSI 检测工具（基于 PCR 或测序的 MSI 测试和错配修复蛋白免疫组织化学）的潜在重大影响。
