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胃肠道间质瘤的风险相关基因及相关信号通路

Risk-Related Genes and Associated Signaling Pathways of Gastrointestinal Stromal Tumors.

作者信息

Gao Fulai, Wang Jiaqi, Li Changjuan, Xie Changshun, Su Miao, Zou Chunyan, Xie Xiaoli, Zhao Dongqiang

机构信息

Department of Gastroenterology, The Second Hospital of Hebei Medical University, Shijiazhuang, 050000, People's Republic of China.

Department of Gastroenterology, The First Hospital of Qinhuangdao, Qinhuangdao, 066000, People's Republic of China.

出版信息

Int J Gen Med. 2022 Apr 8;15:3839-3849. doi: 10.2147/IJGM.S357224. eCollection 2022.

Abstract

PURPOSE

Knowledge on the potential association between differential gene expression and risk of gastrointestinal stromal tumors (GISTs) is currently limited. We used bioinformatics tools to identify differentially expressed genes in GIST samples and the related signaling pathways of these genes.

PATIENTS AND METHODS

The GSE136755 dataset was obtained from the GEO database and differentially expressed genes () were screened using String and Cytoscape bioinformatics tools. Then, three groups of eight patients at high, intermediate and low risk of GIST were selected from patients diagnosed with GIST by immunohistochemistry in our hospital from October 2020 to March 2021. Differential expression of and was verified by comparing the amount of expressed p21-Activated kinase 4 (PAK4) protein in pathological sections.

RESULTS

SPSS26.0 analysis showed that the expression level of PAK4 in GISTs was significantly higher than in normal tissues and paratumoral tissues and there was significant difference among the three groups of patients (P < 0.01). PAK4 levels in paratumoral and normal tissues were negligible with no significant difference between the tissues.

CONCLUSION

and gene expression can be used as biomarkers to assess the risk of gastrointestinal stromal tumors whereby expression increases gradually with the increased risk of GIST formation. The genes encode proteins that regulate the division, proliferation and apoptosis of gastrointestinal stromal tumors mainly through PI3K/AKT, MARK, P53, WNT and other signaling pathways.

摘要

目的

目前关于差异基因表达与胃肠道间质瘤(GIST)风险之间潜在关联的知识有限。我们使用生物信息学工具来识别GIST样本中差异表达的基因以及这些基因的相关信号通路。

患者与方法

从GEO数据库获取GSE136755数据集,并使用String和Cytoscape生物信息学工具筛选差异表达基因()。然后,从2020年10月至2021年3月在我院通过免疫组织化学诊断为GIST的患者中,选取高、中、低风险的三组,每组8例患者。通过比较病理切片中p21激活激酶4(PAK4)蛋白的表达量来验证和的差异表达。

结果

SPSS26.0分析显示,GIST中PAK4的表达水平显著高于正常组织和瘤旁组织,三组患者之间存在显著差异(P < 0.01)。瘤旁组织和正常组织中的PAK4水平可忽略不计,组织间无显著差异。

结论

和基因表达可作为评估胃肠道间质瘤风险的生物标志物,其表达随GIST形成风险的增加而逐渐升高。这些基因编码的蛋白质主要通过PI3K/AKT、MARK、P53、WNT等信号通路调节胃肠道间质瘤的分裂、增殖和凋亡。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/626d/9005359/1c3716b0ca06/IJGM-15-3839-g0001.jpg

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