National Center for Clinical Laboratories, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, PR China; Peking University Fifth School of Clinical Medicine, Beijing Hospital, Beijing, PR China; Beijing Engineering Research Center of Laboratory Medicine, Beijing, PR China.
National Center for Clinical Laboratories, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, PR China; Beijing Engineering Research Center of Laboratory Medicine, Beijing, PR China.
Crit Rev Oncol Hematol. 2021 Jan;157:103171. doi: 10.1016/j.critrevonc.2020.103171. Epub 2020 Nov 25.
Microsatellite instability (MSI) became the spotlight after the US FDA' s approval of MSI as an indication of immunotherapy for cancer patients. Immunohistochemical detection of loss of MMR proteins and PCR amplification of specific microsatellite repeats are widely used in clinical practice. Next-generation sequencing is a promising tool for identifying MSI patients. Circulating tumour DNA provides a convenient alternative when tumour tissue is unavailable. MSI detection is an effective tool to screen for Lynch syndrome. Early-stage CRC patients with MSI generally have a better prognosis and a reduced response to chemotherapy; instead, they are more likely to respond to immunotherapy. In this review, we aimed to assess the clinical utility of MSI as a biomarker in CRC. We will provide an overview of the available methods for evaluation of the analytical validity of MSI detection and elaborate the evidence on the clinical validity of MSI in the management of CRC patients.
微卫星不稳定性 (MSI) 在获得美国食品和药物管理局 (FDA) 批准作为癌症患者免疫治疗的适应证后成为焦点。MMR 蛋白免疫组织化学检测缺失和特定微卫星重复序列的 PCR 扩增广泛应用于临床实践。下一代测序是识别 MSI 患者的有前途的工具。当肿瘤组织不可用时，循环肿瘤 DNA 提供了一种方便的替代方法。MSI 检测是筛查林奇综合征的有效工具。MSI 的早期 CRC 患者一般预后较好，对化疗反应降低；相反，他们更有可能对免疫治疗有反应。在这篇综述中，我们旨在评估 MSI 作为 CRC 生物标志物的临床实用性。我们将概述评估 MSI 检测分析有效性的现有方法，并详细阐述 MSI 在 CRC 患者管理中的临床有效性证据。
