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错配修复缺陷型结直肠癌患者中高微卫星不稳定性和微卫星稳定性是否相同?

Are High Levels of Microsatellite Instability and Microsatellite Stability Identical in DNA Mismatch Repair-Deficient Colorectal Cancer Patients?

机构信息

Department of Gastrointestinal Surgery, The First Affiliated Hospital of Chongqing Medical University, Chongqing 400016, China.

Chinese Academy of Medical Sciences & Peking Union Medical College Institute of Medicinal Biotechnology, Beijing 100050, China.

出版信息

Can J Gastroenterol Hepatol. 2023 Mar 8;2023:8370262. doi: 10.1155/2023/8370262. eCollection 2023.

Abstract

PURPOSE

The purpose of the current study was to determine whether there is a difference between high levels of microsatellite instability (MSI-H) and microsatellite stability (MSS) in DNA mismatch repair-deficient (DMMR) colorectal cancer (CRC) patients.

METHODS

A total of 452 CRC patients with DMMR from December, 2014, to April, 2021, in our hospital were selected retrospectively. However, only 105 patients underwent Sanger or next-generation-sequencing (NGS) to confirm their microsatellite status. Ultimately, 55 MSI-H patients and 20 MSS patients with intact medical record information were included in this study.

RESULTS

The MSS group was associated with a higher mutation rate in the KRAS gene (=0.011). Meanwhile, MSI-H was related to colon cancer ( < 0.01). However, no significant differences in other clinical characteristics were observed between the two groups of patients. There was no significant difference between the MSI-H and MSS groups in terms of overall survival (OS) (=0.398) and disease-free survival (DFS) (=0.307).

CONCLUSION

The MSI-H status was associated with colon cancer and a lower mutation rate of the KRAS gene in DMMR patients. In CRC-DMMR patients, the MSS group exhibited better OS and DFS than the MSI-H group, although these differences were not statistically significant. Accordingly, in clinical practice, we should not confuse these two types of patients.

摘要

目的

本研究旨在确定 DNA 错配修复缺陷(DMMR)结直肠癌(CRC)患者中高度微卫星不稳定(MSI-H)与微卫星稳定(MSS)是否存在差异。

方法

回顾性选取 2014 年 12 月至 2021 年 4 月我院收治的 452 例 DMMR CRC 患者,然而仅有 105 例行 Sanger 或下一代测序(NGS)以明确其微卫星状态。最终,本研究纳入了 55 例 MSI-H 患者和 20 例 MSS 患者,且均有完整的病历资料。

结果

MSS 组 KRAS 基因突变率较高(=0.011)。MSI-H 与结肠癌相关(<0.01)。然而,两组患者的其他临床特征无显著差异。MSI-H 组与 MSS 组在总生存(OS)(=0.398)和无病生存(DFS)(=0.307)方面无显著差异。

结论

MSI-H 状态与 DMMR 患者的结肠癌和 KRAS 基因突变率较低相关。在 CRC-DMMR 患者中,MSS 组的 OS 和 DFS 优于 MSI-H 组,但差异无统计学意义。因此,在临床实践中,我们不应混淆这两种类型的患者。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93a3/10017221/c73d85fe963a/CJGH2023-8370262.001.jpg

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