PIK3CA基因在浆液性卵巢癌中的拷贝数扩增分析及其机制探讨

发布时间：2018-10-29 08:28

【摘要】：目的:研究PIK3CA基因在浆液性卵巢癌中的拷贝数变异(CNV)情况,探讨PIK3CA参与卵巢癌发生发展的可能机制及其预后。方法:从癌症基因组图谱(TCGA)数据库收集浆液性卵巢癌数据(591例患者/603例样本)及其临床资料,包括CNV、m RNA表达和蛋白表达数据。分析PIK3CA基因拷贝数变异与基因表达和预后的相关及其共表达蛋白。对PIK3CA和其相关共表达蛋白进行基因集富集分析。结果:PIK3CA基因在27.7%的卵巢癌患者中发生拷贝数扩增,且与其m RNA表达和蛋白表达呈显著正相关,预后显著较好(OS:P=0.0469;PFS:P=0.0241)。PIK3CA基因拷贝数扩增和表达升高富集了胰岛素信号通路、Erb B通路、m TOR信号通路等基因集。结论:PIK3CA基因拷贝数扩增在高级别浆液性卵巢癌中是一种预后较好因素,通过不同信号通路在肿瘤进展中发挥重要作用,可作为判断预后的标记物。
[Abstract]:Objective: to study the copy number variation (CNV) of PIK3CA gene in serous ovarian cancer and to explore the possible mechanism and prognosis of PIK3CA involved in the development of ovarian cancer. Methods: the data of serous ovarian cancer (591 patients / 603 samples) and their clinical data including CNV,m RNA expression and protein expression were collected from the cancer genome map (TCGA) database. To analyze the correlation between PIK3CA gene copy number variation and gene expression and prognosis and coexpression protein. PIK3CA and its associated coexpression proteins were analyzed by gene set enrichment. Results: the copy number amplification of PIK3CA gene was found in 27.7% of ovarian cancer patients, and was positively correlated with the expression of m RNA and protein, and the prognosis was significantly better (OS:P=0.0469;). PIK3CA gene copy number amplification and expression increase enriched insulin signaling pathway, Erb B pathway, m TOR signal pathway and other gene sets. Conclusion: copy number amplification of PIK3CA gene is a good prognostic factor in high grade serous ovarian cancer. It plays an important role in tumor progression through different signal pathways and can be used as a marker to judge prognosis.
【作者单位】：中国医学科学院
【基金】：国家自然科学基金资助项目(No:81502254)
【分类号】：R737.31

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