Department of Gynecology, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.
Jianping Educational Center of International Curriculum, Shanghai Jianping High School, Shanghai, China.
Front Immunol. 2021 Oct 21;12:749369. doi: 10.3389/fimmu.2021.749369. eCollection 2021.
Ovarian cancer (OC) is one of the most malignant tumors whose mortality rate ranks first in gynecological tumors. Although immunotherapy sheds new light on clinical treatments, the low response still restricts its clinical use because of the unique characteristics of OC such as immunosuppressive microenvironment and unstable genomes. Further exploration on determining an efficient biomarker to predict the immunotherapy response of OC patients is of vital importance. In this study, integrative analyses were performed systematically using transcriptome profiles and somatic mutation data from The Cancer Genome Atlas (TCGA) based on the immune microenvironment and genomic instability of OC patients. Firstly, intersection analysis was conducted to identify immune-related differentially expressed genes (DEGs) and genomic instability-related DEGs. Secondly, Apolipoprotein B MRNA Editing Enzyme Catalytic Subunit 3A (APOBEC3A) was recognized as a protective factor for OC, which was also verified through basic experiments such as quantitative reverse transcription PCR (RT-qPCR), immunohistochemistry (IHC), Cell Counting Kit-8 (CCK-8), and transwell assays. Thirdly, the correlation analyses of APOBEC3A expression with tumor-infiltrating immune cells (TICs), inhibitory checkpoint molecules (ICPs), Immunophenoscores (IPS), and response to anti-PD-L1 immunotherapy were further applied along with single-sample GSEA (ssGSEA), demonstrating APOBEC3A as a promising biomarker to forecast the immunotherapy response of OC patients. Last, the relationship between APOBEC3A expression with tumor mutation burden (TMB), DNA damage response (DDR) genes, and m6A-related regulators was also analyzed along with the experimental verification of immunofluorescence (IF) and RT-qPCR, comprehensively confirming the intimate association of APOBEC3A with genomic instability in OC. In conclusion, APOBEC3A was identified as a protective signature and a promising prognostic biomarker for forecasting the survival and immunotherapy effect of OC patients, which might accelerate the clinical application and improve immunotherapy effect.
卵巢癌 (OC) 是最恶性的肿瘤之一,其死亡率在妇科肿瘤中排名第一。尽管免疫疗法为临床治疗带来了新的曙光,但由于 OC 具有免疫抑制微环境和不稳定基因组等独特特征,其低反应率仍然限制了其临床应用。进一步探索确定有效的生物标志物来预测 OC 患者的免疫治疗反应至关重要。在这项研究中,我们基于 OC 患者的免疫微环境和基因组不稳定性,系统地使用转录组谱和来自癌症基因组图谱 (TCGA) 的体细胞突变数据进行综合分析。首先,进行交集分析以鉴定免疫相关差异表达基因 (DEGs) 和基因组不稳定相关 DEGs。其次,鉴定载脂蛋白 B mRNA 编辑酶催化亚基 3A (APOBEC3A) 是 OC 的保护因素,这也通过定量逆转录 PCR (RT-qPCR)、免疫组织化学 (IHC)、细胞计数试剂盒-8 (CCK-8) 和 Transwell 测定等基础实验得到验证。第三,进一步应用 APOBEC3A 表达与肿瘤浸润免疫细胞 (TICs)、抑制性检查点分子 (ICPs)、免疫表型评分 (IPS) 和抗 PD-L1 免疫治疗反应的相关性分析,以及单样本 GSEA (ssGSEA),表明 APOBEC3A 是预测 OC 患者免疫治疗反应的有前途的生物标志物。最后,还分析了 APOBEC3A 表达与肿瘤突变负担 (TMB)、DNA 损伤反应 (DDR) 基因和 m6A 相关调节剂之间的关系,并通过免疫荧光 (IF) 和 RT-qPCR 进行了实验验证,全面证实了 APOBEC3A 与 OC 中基因组不稳定性的密切关联。总之,APOBEC3A 被鉴定为一种保护性特征和预测 OC 患者生存和免疫治疗效果的有前途的预后生物标志物,这可能加速临床应用并提高免疫治疗效果。