Ryzhikh National Medical Research Center of Coloproctology, 123423 Moscow, Russia.
Int J Mol Sci. 2022 Jun 25;23(13):7062. doi: 10.3390/ijms23137062.
The aim of this study was to determine the characteristics of Russian patients with microsatellite instability (MSI) tumors. MSI in the tumor was determined in 514 patients with colon cancer using PCR and subsequent fragment analysis for five markers (NR21, NR24, BAT25, BAT26, and NR27). In the presence of microsatellite instability, the mismatch repair (MMR) system genes were examined using the NGS and MLPA methods to establish the diagnosis of Lynch syndrome. The overall frequency of MSI tumors was 15%: at stage I—19% (9/48), at stage II—21% (44/213), at stage III—16% (26/160), and at stage IV—2% (2/93). Patients with MSI tumors differed in the age of diagnosis, tumor localization, time of cancer recurrence, and stage of the disease. The overall and disease-free survival of patients whose tumors had MSI status was higher than that of patients with microsatellite-stable status, p = 0.04 and p = 0.02, respectively. Analysis of overall and disease-free survival of patients with Lynch syndrome and patients with sporadic colon cancer, but with MSI status, did not reveal significant differences, p = 0.52 and p = 0.24, respectively. The age of patients with Lynch syndrome was significantly younger than that of patients with sporadic colon cancer whose tumors had MSI status (p < 0.001).
本研究旨在确定具有微卫星不稳定(MSI)肿瘤的俄罗斯患者的特征。采用 PCR 及随后的片段分析对 514 例结肠癌患者的肿瘤进行 MSI 检测,使用 5 个标志物(NR21、NR24、BAT25、BAT26 和 NR27)。存在微卫星不稳定性时,使用 NGS 和 MLPA 方法检测错配修复(MMR)系统基因,以建立林奇综合征的诊断。MSI 肿瘤的总体频率为 15%:I 期为 19%(48 例中的 9 例),II 期为 21%(213 例中的 44 例),III 期为 16%(160 例中的 26 例),IV 期为 2%(93 例中的 2 例)。MSI 肿瘤患者在诊断年龄、肿瘤定位、癌症复发时间和疾病分期方面存在差异。具有 MSI 状态的肿瘤患者的总生存期和无病生存期均高于具有微卫星稳定状态的肿瘤患者,p = 0.04 和 p = 0.02。林奇综合征和散发性结肠癌患者(但具有 MSI 状态)的总生存期和无病生存期分析未显示出显著差异,p = 0.52 和 p = 0.24。林奇综合征患者的年龄明显小于具有 MSI 状态的散发性结肠癌患者(p < 0.001)。