Barry Cristofer, Shahi Aashirwad, Kidane Dawit
Department of Physiology & Biophysics, College of Medicine, Howard University, 520 W Street N.W, Washington, DC, 20059, USA.
Sci Rep. 2025 May 10;15(1):16308. doi: 10.1038/s41598-025-00393-9.
Endometrial cancer (EC) is the most common gynecological malignancy. Although prognosis is favorable for patients with an early-stage disease, those with recurrent or more advanced disease have low response rates to chemotherapy and poor clinical outcomes. Previously, we have shown that DNA repair gene (NEIL3) is required for retaining replication fork integrity during replication stress. Here, we examined whether the overexpression of NEIL3 in endometrial cancer associated with altered genomic instability, tumor immunogenicity and anti-tumor immunity in endometrial tumor. In this study, we show that endometrial cancer patients with tumors that a have high NEIL3 expression associated with worse overall survival (OS) outcomes in patients. In addition, tumor with high NEIL3 expression is associated with high number of mutation and chromosomal instability. Furthermore, NEIL3 expression in EC tumors positively correlated with mutation of DNA polymerase eta (POLE) and TP53 as well as high expression of replicative polymerases genes (POLE, POLD1 and POLA1). In contrast, tumor with high NEIL3 expression exhibit low tumor immunogenicity and poor anti-tumor immune cell infiltration. Our findings may have important clinical implications for utilizing NEIL3 as a potential prognostic biomarker to stratify EC patients and as a target to enhance immunotherapy response in endometrial cancer. However, our NEIL3 overexpression associated observation still requires further experimental-based scientific validation studies.
子宫内膜癌(EC)是最常见的妇科恶性肿瘤。尽管早期疾病患者的预后良好,但复发或病情更严重的患者对化疗的反应率较低,临床结果较差。此前,我们已经表明,DNA修复基因(NEIL3)在复制应激期间维持复制叉完整性方面是必需的。在这里,我们研究了NEIL3在子宫内膜癌中的过表达是否与子宫内膜肿瘤中基因组不稳定性改变、肿瘤免疫原性和抗肿瘤免疫相关。在本研究中,我们表明,NEIL3表达高的子宫内膜癌患者的总体生存(OS)结果较差。此外,NEIL3表达高的肿瘤与大量突变和染色体不稳定性相关。此外,EC肿瘤中NEIL3表达与DNA聚合酶η(POLE)和TP53的突变以及复制性聚合酶基因(POLE、POLD1和POLA1)的高表达呈正相关。相反,NEIL3表达高的肿瘤表现出低肿瘤免疫原性和抗肿瘤免疫细胞浸润少。我们的研究结果可能对利用NEIL3作为潜在的预后生物标志物来分层EC患者以及作为增强子宫内膜癌免疫治疗反应的靶点具有重要的临床意义。然而,我们关于NEIL3过表达相关的观察结果仍需要进一步基于实验的科学验证研究。