第二、第三阶段的疾病是结直肠癌最常见的形式，约占70％的病例。此外，约15％-20％的第二、第三阶段的患者存在缺陷错配修复或微卫星不稳定性高的结直肠癌。然而，尚未找到与该疾病相关的重要预后生物标志物。本研究旨在发现缺陷错配修复/微卫星不稳定性高结直肠癌第二、第三阶段患者的预后标志物。采用回顾性研究设计。该研究在中国医学科学院肿瘤医院这一高量级结直肠中心进行。研究对象为在2015年7月至2018年11月期间在中国医学科学院肿瘤医院接受根治性手术的第二、第三阶段缺陷错配修复/微卫星不稳定性高结直肠癌患者。主要的结局指标是不同突变基因对无进展生存的影响。回顾性的缺陷错配修复/微卫星不稳定性高队列和癌症基因组图谱-微卫星不稳定性高队列分别涉及32名和45名患者。缺陷错配修复/微卫星不稳定性高患者中，MKI67、TPR和TCHH的突变频率较微卫星稳定患者更高。MKI67、TPR、TCHH和基因组合与预后显著相关。生物标志物-突变型结直肠癌组相比野生型组有更高的复发或死亡风险。此外，生物标志物-突变型肿瘤在DNA损伤修复途径和肿瘤突变负荷方面的突变更多。本研究受到其回顾性性质的限制。MKI67、TPR和TCHH可能作为缺陷错配修复/微卫星不稳定性高结直肠癌第二、第三阶段的潜在诊断和预后生物标志物。Copyright © The ASCRS 2023.

Stage II/III disease is the most predominant form of colorectal cancer, accounting for approximately 70% of cases. Further, approximately 15%-20% of patients with stage II/III disease have deficient mismatch repair or microsatellite instability-high colorectal cancer. However, there are no identified significant prognostic biomarkers for this disease.This study aimed to identify prognostic markers for patients with deficient mismatch repair/microsatellite instability-high colon cancer stage II/III.Retrospective study design.The study was conducted at a high-volume colorectal center, the Cancer Hospital, Chinese Academy of Medical Sciences.Patients diagnosed with stage II-III deficient mismatch repair/microsatellite instability-high colon cancer who underwent curative surgery at the Cancer Hospital Chinese Academy of Medical Sciences between July 2015 and November 2018.The primary outcome measure was the influence of differentially mutated genes on progression-free survival.The retrospective deficient mismatch repair/microsatellite instability-high cohort and The Cancer Genome Atlas-microsatellite instability-high cohort involved 32 and 45 patients, respectively. The deficient mismatch repair/microsatellite instability-high patients had higher mutational frequencies of MKI67, TPR, and TCHH than microsatellite stable patients. MKI67, TPR, TCHH, and gene combination were significantly correlated with prognosis. The biomarker-mutation-type colon cancer group had a higher risk of recurrence or death than did the wild-type group. Moreover, biomarker-mutation-type tumors had more mutations in the DNA damage repair pathway and tumor mutational burden than did biomarker wild-type tumors.This study was limited by its retrospective nature.MKI67, TPR, and TCHH may serve as potential diagnostic and prognostic biomarkers for deficient mismatch repair/microsatellite instability-high colon cancer stage II/III.Copyright © The ASCRS 2023.