POLE/POLD1突变与肿瘤免疫治疗研究进展

Advances in research of POLE/POLD1 mutations in cancer immunotherapy

阐述了DNA聚合酶?(polymerase epsilon,POLE)和DNA聚合酶delta 1(polymerase delta 1,POLD1)基因编码的亚基参与DNA复制和校对,总结了POLE/POLD1突变对肿瘤突变负荷以及肿瘤内免疫细胞浸润的影响,综述了POLE/POLD1突变在子宫内膜癌、结直肠癌、肺癌中的研究进展,并讨论了POLE/POLD1突变作为潜在的免疫检查点抑制剂疗效预测分子标志物面临的诸多挑战。

This article expounds the involvement of subunits encoded by DNA polymerase(POLE) and DNA polymerase delta 1(POLD1) in DNA replication and proofreading, summarizes the effects of POLE/POLD1 mutations on tumor mutation load and intratumoral immune cell infiltration, and reviews the research progress of POLE/POLD1 mutations in immunotherapy of endometrial cancer, colorectal cancer and lung cancer. This article also discusses the challenges faced by POLE/POLD1 mutations as potential molecular markers for the predicting efficacy of immune checkpoint inhibitors.