Tu Bizhi, Jia Yaya, Qian Jun
Department of Orthopedics, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, People's Republic of China.
Department of Pediatrics, The Shanxi Medical University, Taiyuan, Shanxi, People's Republic of China.
Int J Gen Med. 2022 Apr 5;15:3711-3725. doi: 10.2147/IJGM.S352048. eCollection 2022.
Human sarcomas (SARC) are a group of malignant tumors that originated from mesenchymal lineages with more than 60 subtypes. However, potential biomarkers for the diagnosis and prognosis of SARC remain to be investigated.
We obtained three GSE raw matrix files (GSE39262, GSE21122, GSE48418) that related to various subtypes of sarcoma from the public GEO database and explored the widely differential expression genes in three obtained GSE files. Then common differential expression genes (CDGEs) were identified. We analyzed the correlation between the expression of the top five interacted genes of CDEGs and genome-wide differences, prognosis, genetic mutation, functional enrichment, immune infiltration, immune checkpoint, and marker genes' expression of N6-methyladenosine (mA) modification in SARC patients. Besides, a prognostic nomogram was constructed to predict the survival of SARC patients.
Among the three GSE files, 42 CDGEs were identified, and the top five interacted genes were ASPM, CCNB2, PRC1, AURKA, and SCM2. The expression levels of the five genes were higher in the SARC group than that in the normal group. The transcriptional level of CCNB2, PRC, and SCM2 was correlated to the worse survival of SARC. The constructed nomogram that combined CNB2, PRC1, and SCM2 showed a fairly good incredibility in predicting the survival of SARC (C-index: 0.711). Furthermore, the five genes were widely involved in immune infiltration, immune checkpoint, and mA modification. In addition, we found a minor survival-related mutation rate (9%) of the five identified genes in SARC patients (p < 0.05).
The results suggested the five identified genes widely participated in the prognosis, immune infiltration, immune checkpoint, and mA modification of SARC patients. This study provided a theoretical basis for the research about the correlation between the level of five identified genes and sarcoma, but the further mechanism needs to be verified by experiments.
人类肉瘤（SARC）是一组起源于间充质谱系的恶性肿瘤，有60多种亚型。然而，SARC诊断和预后的潜在生物标志物仍有待研究。
我们从公共基因表达综合数据库（GEO）获得了三个与肉瘤不同亚型相关的GSE原始矩阵文件（GSE39262、GSE21122、GSE48418），并探索了三个获得的GSE文件中广泛差异表达的基因。然后鉴定出共同差异表达基因（CDGE）。我们分析了CDEG中前五个相互作用基因的表达与SARC患者全基因组差异、预后、基因突变、功能富集、免疫浸润、免疫检查点以及N6-甲基腺苷（mA）修饰的标记基因表达之间的相关性。此外，构建了一个预后列线图来预测SARC患者的生存情况。
在这三个GSE文件中，鉴定出42个CDGE，前五个相互作用基因是ASPM、CCNB2、PRC1、AURKA和SCM2。这五个基因在SARC组中的表达水平高于正常组。CCNB2、PRC和SCM2的转录水平与SARC较差的生存率相关。结合CNB2、PRC1和SCM2构建的列线图在预测SARC患者生存方面显示出相当好的可信度（C指数：0.711）。此外，这五个基因广泛参与免疫浸润、免疫检查点和mA修饰。另外，我们发现SARC患者中这五个鉴定基因的生存相关突变率较低（9%）（p<0.05）。
结果表明，这五个鉴定出的基因广泛参与SARC患者的预后、免疫浸润、免疫检查点和mA修饰。本研究为五个鉴定基因水平与肉瘤之间的相关性研究提供了理论依据，但进一步的机制需要通过实验验证。
