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肾上腺皮质癌中焦亡相关基因预后及免疫微环境的特征

The signature of pyroptosis-related gene prognostic and immune microenvironment in adrenocortical carcinoma.

作者信息

Gao Jun, Wang Dai, Yang Qingping, Tang Mengjie, Du Jiayi, He Leye, Liu Wei

机构信息

Department of Urology, The Third Xiangya Hospital, Central South University, Changsha, China.

Xiangya School of Pharmacy, Central South University, Changsha, China.

出版信息

Front Mol Biosci. 2023 Feb 24;10:1131402. doi: 10.3389/fmolb.2023.1131402. eCollection 2023.

Abstract

Adrenocortical carcinoma (ACC) has a low incidence but a poor prognosis. And ACC has complex clinical manifestations and limited treatment. Pyroptosis has a dual character and has both positive and negative effects on cancer. However, the role of pyroptosis-related genes (PRGs) in ACC and the impact on ACC progression remains unelucidated. This study performed systematic bioinformatics analysis and basic experimental validation to enable the establishment of prognostic models and demonstrate levels of immune infiltration. Pearson's correlation analysis was used to assess the association of PRGs with tumor immune infiltration, tumor mutation burden (TMB), microsatellite instability (MSI), and immune checkpoints. There 4 PRGs were upregulated, and 25 PRGs were downregulated in ACC. At the same time, we analyzed and reviewed the genetic mutation variation landscape of PRGs. Functional enrichment analysis was also performed to clarify the function of PRGs. Pyroptosis, the inflammatory response, the Toll-like receptor signaling pathway, and the NOD-like receptor signaling pathway are the functions and pathways mainly involved and exerted effects by these 33 PRGs. The results of the prognosis analysis revealed high expression of CASP3, CASP9, GSDMB, GSDMD, NLRC4, PRKACA, and SCAF11 caused a poor survival rate for ACC patients. The above seven PRGs were screened by the optimal λ value of LASSO Cox analysis, and the five selected genes (CASP3, CASP9, GSDMB, GSDMD, NLRC4) were involved in constructing a prognostic PRGs model which enables the overall survival in ACC patients can be predicted with moderate to high accuracy. Prognostic PRGs, especially CASP9, which is the independent factor of ACC prognosis, may be closely correlated with immune-cell infiltration, tumor mutation burden, microsatellite instability, and immune checkpoints. Quantitative Real-Time PCR (qRT-PCR), Western blot and immunohistochemical were performed to validate the mRNA expression levels of CASP9 in adjacent normal tissues and ACC tissues. According to the result of immune checkpoints analysis, NLRC4 and GSDMB may be identified as potential therapeutic targets. In conclusion, we established a prognostic model of PRG characteristics in ACC and analyzed the relationship between PRGs and immune infiltration. Through our study, it may be helpful to find the mechanism of pyroptosis in ACC.

摘要

肾上腺皮质癌(ACC)发病率低但预后较差。ACC临床表现复杂且治疗手段有限。细胞焦亡具有双重特性,对癌症既有积极作用也有消极作用。然而,细胞焦亡相关基因(PRGs)在ACC中的作用以及对ACC进展的影响仍不明确。本研究进行了系统的生物信息学分析和基础实验验证,以建立预后模型并展示免疫浸润水平。采用Pearson相关性分析评估PRGs与肿瘤免疫浸润、肿瘤突变负荷(TMB)、微卫星不稳定性(MSI)和免疫检查点的关联。在ACC中,有4个PRGs上调,25个PRGs下调。同时,我们分析并回顾了PRGs的基因突变变异图谱。还进行了功能富集分析以阐明PRGs的功能。细胞焦亡、炎症反应、Toll样受体信号通路和NOD样受体信号通路是这33个PRGs主要涉及并发挥作用的功能和通路。预后分析结果显示,半胱天冬酶3(CASP3)、半胱天冬酶9(CASP9)、Gasdermin B(GSDMB)、Gasdermin D(GSDMD)、NLR家族CARD结构域包含蛋白4(NLRC4)、蛋白激酶A催化亚基α(PRKACA)和剪接因子11(SCAF11)的高表达导致ACC患者生存率较低。通过LASSO Cox分析的最佳λ值筛选出上述7个PRGs,所选的5个基因(CASP3、CASP9、GSDMB、GSDMD、NLRC4)用于构建预后PRGs模型,该模型能够以中到高准确度预测ACC患者的总生存期。预后PRGs,尤其是作为ACC预后独立因素的CASP9,可能与免疫细胞浸润、肿瘤突变负荷、微卫星不稳定性和免疫检查点密切相关。采用定量实时荧光定量PCR(qRT-PCR)、蛋白质免疫印迹法和免疫组织化学法验证CASP9在癌旁正常组织和ACC组织中的mRNA表达水平。根据免疫检查点分析结果,NLRC4和GSDMB可能被确定为潜在治疗靶点。总之,我们建立了ACC中PRG特征的预后模型,并分析了PRGs与免疫浸润之间的关系。通过我们的研究,可能有助于发现ACC中细胞焦亡的机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b40/9998516/d182f3569708/fmolb-10-1131402-g001.jpg

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