Department of Hematology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Division of Spine, Department of Orthopedics, Tongji Hospital Affiliated to Tongji University School of Medicine, Shanghai, China.
Aging (Albany NY). 2021 May 17;13(10):14131-14158. doi: 10.18632/aging.203030.
Extranodal diffuse large B cell lymphoma (EN DLBCL) often leads to poor outcomes, while the underlying mechanism remains unclear. As immune imbalance plays an important role in lymphoma pathogenesis, we hypothesized that immune genes might be involved in the development of EN DLBCL. Ninety-three differentially expressed immune genes (DEIGs) were identified from 1168 differentially expressed genes (DEGs) between tumor tissues of lymph node DLBCL (LN DLBCL) and EN DLBCL patients in TCGA database. Nine prognostic immune genes were further identified from DEIGs by univariate Cox regression analysis. A multivariate predictive model was established based on these prognostic immune genes. Patients were divided into high- and low-risk groups according to the median model-based risk score. Kaplan-Meier survival curves showed that patients in the high-risk group had a shorter survival time than those in the low-risk group (P < 0.001). Ubiquitin-specific peptidase 18 (USP18) was further recognized as the key immune gene in EN DLBCL on the basis of coexpression of differentially expressed transcription factors (DETFs) and prognostic immune genes. USP18 exhibited low expression in EN DLBCL, which was regulated by LIM homeobox 2 (LHX2) (R = 0.497, P < 0.001, positive). The potential pathway downstream of USP18 was the MAPK pathway, identified by gene set variation analysis (GSVA), gene set enrichment analysis (GSEA) and Pearson correlation analysis (R = 0.294, P < 0.05, positive). The "ssGSEA" algorithm and Pearson correlation analysis identified that activated dendritic cells (aDCs) were the cell type mostly associated with USP18 (R = 0.694, P < 0.001, positive), indicating that USP18 participated in DC-modulating immune responses. The correlations among key biomarkers were supported by multiomics database validation. Indeed, the USP18 protein was confirmed to be expressed at lower levels in tumor tissues in patients with EN DLBCL than in those with LN DLBCL by immunohistochemistry. In short, our study illustrated that the downregulation of USP18 was associated with reduced aDC number in the tumor tissues of EN DLBCL patients, indicating that targeting USP18 might serve as a promising therapy.
结外弥漫性大 B 细胞淋巴瘤(EN DLBCL)常导致预后不良,但其潜在机制尚不清楚。由于免疫失衡在淋巴瘤发病机制中起着重要作用,我们假设免疫基因可能参与 EN DLBCL 的发生。通过 TCGA 数据库中肿瘤组织的淋巴结 DLBCL(LN DLBCL)和 EN DLBCL 患者之间的 1168 个差异表达基因(DEG),鉴定出 93 个差异表达免疫基因(DEIG)。通过单变量 Cox 回归分析从 DEIG 中进一步鉴定出 9 个预后免疫基因。基于这些预后免疫基因建立了一个多变量预测模型。根据基于模型的风险评分中位数,患者被分为高风险和低风险组。Kaplan-Meier 生存曲线显示,高风险组患者的生存时间短于低风险组患者(P<0.001)。基于差异表达转录因子(DETF)和预后免疫基因的共表达,进一步确定泛素特异性肽酶 18(USP18)为 EN DLBCL 的关键免疫基因。EN DLBCL 中 USP18 表达水平较低,受 LIM 同源框 2(LHX2)调节(R=0.497,P<0.001,阳性)。通过基因集变异分析(GSVA)、基因集富集分析(GSEA)和 Pearson 相关性分析,鉴定出 USP18 的下游潜在途径是 MAPK 途径(R=0.294,P<0.05,阳性)。“ssGSEA”算法和 Pearson 相关性分析确定激活树突状细胞(aDC)是与 USP18 最相关的细胞类型(R=0.694,P<0.001,阳性),表明 USP18 参与了调节 DC 的免疫反应。通过多组学数据库验证,关键生物标志物之间的相关性得到了支持。实际上,通过免疫组织化学,在 EN DLBCL 患者的肿瘤组织中证实 USP18 蛋白的表达水平低于 LN DLBCL 患者。总之,本研究表明,USP18 的下调与 EN DLBCL 患者肿瘤组织中 aDC 数量减少有关,表明靶向 USP18 可能是一种有前途的治疗方法。