肿瘤特征影响错配修复缺陷/微卫星高度不稳定局部结直肠癌的预后——一项系统综述与荟萃分析

Deficient mismatch repair (dMMR) and microsatellite instability-high (MSI-H) tumors constitute 15% of localized colorectal cancers (CRCs). Prognostic biomarkers such as tumor-infiltrating lymphocytes (TILs) and BRAF and KRAS mutations may guide personalized treatment for these patients, and this systematic review and meta-analysis aimed to evaluate their impact on survival outcomes.

Literature searches were conducted across PubMed, Embase, Cochrane Library, and Web of Science, including studies published between 2004 and 2023. The primary outcomes were overall survival (OS), disease-free survival (DFS), and cancer-specific survival. The risk of bias was assessed using the Newcastle-Ottawa Scale, and the certainty of evidence using the GRADE approach.

The literature search yielded 5636 articles. Fifty-four studies were included in the systematic review and 31 studies in the meta-analysis, totaling 4551 patients. High TIL density was significantly associated with improved OS (hazard ratio [HR] = 0.39, 95% CI = 0.17 to 0.89) and DFS (HR = 0.45, 95% CI = 0.29 to 0.71). BRAF and KRAS mutations were seen in 52% and 34% of patients, respectively, and were associated with poorer OS (HR = 1.43, 95% CI = 1.13 to 1.80 and HR = 1.30, 95% CI = 1.09 to 1.54, respectively). Quality of evidence was moderate to high across all exposures and outcomes.

High infiltration of TILs correlated with improved OS and DFS, whereas BRAF and KRAS mutations were associated with worse OS in patients with localized dMMR/MSI-H CRC. These findings highlight the potential utility of biomarkers for improving prognostic assessment and personalizing management in dMMR CRC.