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[胸腺瘤基因变异的基因芯片分析]

[Analysis of Gene Variation in Thymoma by Microarray].

作者信息

Wang Lijun, Yu Lei, Du Xin, Huo Chengyu

机构信息

Civil Aviation General Hospital, Beijing 100123, China.

Department of Thoracic Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing 100069, China.

出版信息

Zhongguo Fei Ai Za Zhi. 2020 Dec 20;23(12):1073-1079. doi: 10.3779/j.issn.1009-3419.2020.102.46.

Abstract

BACKGROUND

Thymoma is the most common malignant tumor in anterior mediastinum, and its specific pathogenesis is still unclear. This limits the study of targeted drugs for thymoma. The aim of the study is to investigate the genes and signal pathways of thymoma, and provide help for the research of thymic tumor pathogenesis using the technology of second-generation genechip to analyze thymoma.

METHODS

From January 2015 to December 2017, we analyzed 31 cases of thymoma by CapitaBio mRNA expression profile genechip technology, and then confirmed the genes by reverse transcription-polymerase chain reaction (RT-PCR).

RESULTS

We found some genes with different expression levels between thymoma and surrounding thymus tissue. Among them, six driving genes (FANCI, CAPD3, NCAPG, OXCT1, EPHA1 and MCM2) were significantly abnormal in thymoma. Some specific genes affected by copy-number variation were detected: E2F2, EphA1, CCL25 and MCM2 were significantly up-regulated, while IL-6, CD36, FABP4, SH2D1A and MYOC genes were significantly down-regulated. KEGG database analysis showed that the expression of 10 signaling pathway genes was generally up-regulated or down-regulated, such as systemic lupus erythematosus, viral oncogenes, primary immunodeficiency, cell cycle genes and p53 signaling pathway, which may be related to occurrence of thymoma.

CONCLUSIONS

We found a variety of genes abnormally expressed in thymoma, which will provide reference for the study of pathogenesis and biomarkers of thymoma in the future.

摘要

背景

胸腺瘤是前纵隔最常见的恶性肿瘤,其具体发病机制仍不清楚。这限制了胸腺瘤靶向药物的研究。本研究旨在探讨胸腺瘤的基因及信号通路,利用二代基因芯片技术分析胸腺瘤,为胸腺肿瘤发病机制的研究提供帮助。

方法

2015年1月至2017年12月,我们采用基迪奥生物mRNA表达谱基因芯片技术分析31例胸腺瘤,并通过逆转录聚合酶链反应(RT-PCR)对基因进行验证。

结果

我们发现胸腺瘤与周围胸腺组织之间存在一些表达水平不同的基因。其中,六个驱动基因(FANCI、CAPD3、NCAPG、OXCT1、EPHA1和MCM2)在胸腺瘤中显著异常。检测到一些受拷贝数变异影响的特定基因:E2F2、EphA1、CCL25和MCM2显著上调,而IL-6、CD36、FABP4、SH2D1A和MYOC基因显著下调。KEGG数据库分析表明,10条信号通路基因的表达普遍上调或下调,如系统性红斑狼疮、病毒癌基因、原发性免疫缺陷、细胞周期基因和p53信号通路,这可能与胸腺瘤的发生有关。

结论

我们发现胸腺瘤中多种基因异常表达,这将为未来胸腺瘤发病机制及生物标志物的研究提供参考。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/257c/7786222/4943598b74cd/zgfazz-23-12-1073-1.jpg

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