Table1_Comprehensive Analysis of the Immune Cell Infiltration Landscape and Immune-Related Methylation in Retinoblastoma.CSV

Retinoblastoma is a common pediatric intraocular cancer, originating from cone precursors. The development of immunotherapies can help eradicate the tumor without vision loss, which would largely improve the quality of life of patients with retinoblastoma. Investigation of the tumor immune microenvironment provides knowledge for developing novel immunotherapies in cancer. However, the immune cell infiltrative landscape of retinoblastoma is unknown. Here, we compared the relative expression of immune gene signatures among 59 patients with retinoblastoma. The patients were divided into two subgroups according to the 28 types of immune cell infiltration (ICI) scores. We found that a subgroup with high ICI scores had increased expression levels of late cone markers, while the other subgroup exhibited larger tumor size and metastasis propensity. Furthermore, hypermethylated genes in the high-ICI subgroup were associated with immune regulation in the tumor microenvironment, suggesting that DNA methylation may play a vital regulatory role in retinoblastoma immunity. Our study provides a comprehensive framework for the systemic analysis of the influences of epigenetic events on the tumor immune microenvironment. We anticipate that our assay can not only provide insights into tumor immune regulation but also open up the perspectives for the identification of novel immunotherapy targets for retinoblastoma.

视网膜母细胞瘤是一种常见的儿童眼内癌，起源于锥体前体细胞。免疫疗法的开发有助于在不造成视力丧失的情况下根除肿瘤，从而显著提高视网膜母细胞瘤患者的生存质量。对肿瘤免疫微环境的探究为开发新型癌症免疫疗法提供了知识。然而，视网膜母细胞瘤的免疫细胞浸润图谱尚不明确。在本研究中，我们比较了59名视网膜母细胞瘤患者的免疫基因特征的相对表达情况。根据28种免疫细胞浸润（ICI）评分，将这些患者分为两组。我们发现，高ICI评分的亚组中晚期锥体标记物的表达水平升高，而另一组则表现出更大的肿瘤体积和转移倾向。此外，高-ICI亚组中的高甲基化基因与肿瘤微环境中的免疫调节相关，表明DNA甲基化可能在视网膜母细胞瘤的免疫调节中发挥至关重要的调控作用。我们的研究为系统分析表观遗传事件对肿瘤免疫微环境的影响提供了一个全面的框架。我们期待我们的实验不仅能够为肿瘤免疫调节提供洞见，而且能够为识别视网膜母细胞瘤新型免疫疗法靶点开辟新的视角。