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错配修复缺陷在非转移性结直肠癌中的预后和预测价值

Prognostic and Predictive Values of Mismatch Repair Deficiency in Non-Metastatic Colorectal Cancer.

作者信息

Jin Zhaohui, Sinicrope Frank A

机构信息

Division of Oncology, Mayo Clinic and Mayo Comprehensive Cancer Center, Rochester, MN 55905, USA.

出版信息

Cancers (Basel). 2021 Jan 15;13(2):300. doi: 10.3390/cancers13020300.

Abstract

Colorectal cancer (CRC) is the third most commonly diagnosed cancer worldwide. Universal MMR/MSI testing is standard of care for all patients with newly diagnosed CRC based on multi-society guidelines in the United States. Such testing is intended to identify patients with Lynch Syndrome due to a germline mutation in an MMR gene, but also detects those with sporadic dMMR/MSI-high CRCs. The prognostic utility of MMR/MSI status in non-metastatic colorectal cancer has been studied extensively, yet more limited data are available for its predictive utility. Results have not been entirely consistent due to potential stage-related differences and limited numbers of dMMR/MSI-H patients included in the studies. In this review, we summarize the current evidence for the prognostic and predictive value of dMMR/MSI-H in non-metastatic CRC, and discuss the use of this biomarker for patient management and treatment decisions in clinical practice.

摘要

结直肠癌(CRC)是全球第三大常见诊断癌症。根据美国多学会指南,对所有新诊断的CRC患者进行普遍的错配修复(MMR)/微卫星高度不稳定(MSI)检测是标准治疗方法。此类检测旨在识别因MMR基因种系突变而患有林奇综合征的患者,但也能检测出散发性错配缺陷(dMMR)/MSI高的结直肠癌患者。MMR/MSI状态在非转移性结直肠癌中的预后效用已得到广泛研究,但其预测效用的数据则较为有限。由于潜在的分期相关差异以及研究中纳入的dMMR/MSI-H患者数量有限,结果并不完全一致。在本综述中,我们总结了dMMR/MSI-H在非转移性CRC中的预后和预测价值的当前证据,并讨论了该生物标志物在临床实践中用于患者管理和治疗决策的情况。

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