Abstract:
Colorectal cancers (CRCs) with high microsatellite instability (MSI-H) and deficient mismatch repair (dMMR) show molecular and clinicopathological characteristics that differ from those of proficient mismatch repair/microsatellite stable CRCs. Despite the importance of MSI-H/dMMR status in clinical decision making, the testing rates for MSI and MMR in clinical practice remain low, even in high-risk populations. Additionally, the real-world prevalence of MSI-H/dMMR CRC may be lower than that reported in the literature. Insufficient MSI and MMR testing fails to identify patients with MSI-H/dMMR CRC, who could benefit from immunotherapy. In this article, we describe the current knowledge of the clinicopathological features, molecular landscape, and radiomic characteristics of MSI-H/dMMR CRCs. A better understanding of the importance of MMR/MSI status in the clinical characteristics and prognosis of CRC may help increase the rates of MMR/MSI testing and guide the development of more effective therapies based on the unique features of these tumors.
摘要:
具有高微卫星不稳定性(MSI-H)和错配修复缺陷(dMMR)的结直肠癌(CRC)显示出与熟练错配修复/微卫星稳定CRC不同的分子和临床病理特征。尽管MSI-H/dMMR状态在临床决策中的重要性,临床实践中MSI和MMR的检测率仍然很低,即使是高危人群。此外,MSI-H/dMMRCRC的真实世界患病率可能低于文献报道.MSI和MMR检测不足无法识别MSI-H/dMMRCRC患者,可以从免疫疗法中受益。在这篇文章中,我们描述了临床病理特征的当前知识,分子景观,和MSI-H/dMMRCRC的影像学特征。更好地了解MMR/MSI状态在CRC的临床特征和预后中的重要性可能有助于提高MMR/MSI检测率,并根据这些肿瘤的独特特征指导更有效的治疗方法的开发。