【摘要】 目的探讨卵巢癌及宫颈癌病人PIK3CA基因拷贝数变异的意义及其信号转导机制。方法从癌症基因组图谱(TCGA)数据库得到宫颈癌(275例)和卵巢癌(201例)病人PIK3CA基因的mRNA表达矩阵、拷贝数变异情况及相关基因,进行生物信息学分析。结果卵巢癌及宫颈癌PIK3CA基因拷贝数变异比例均较高。临床病理特征分析显示,卵巢癌病人PIK3CA基因扩增变异的病人预后较差,而宫颈癌病人PIK3CA基因扩增变异病人高级别病理分级占比较低。生存分析表明,PIK3CA基因扩增变异对卵巢癌及宫颈癌病人无病生存期和总生存期无显著影响。KEGG分析表明,宫颈癌及卵巢癌PIK3CA基因拷贝数扩增与不携带该基因拷贝数变异病人所激活的信号通路类似,PIK3CA基因拷贝数扩增会激活PI3K-AKT信号通路进而促进卵巢及宫颈上皮细胞发生恶性转化。GO分析表明,PIK3CA基因拷贝数扩增对细胞内的生物进程、分子功能、细胞组分均有显著影响。结论 PIK3CA基因拷贝数异常在卵巢癌及宫颈癌中极为常见,可能成为临床治疗的分子指标。更多还原

【Abstract】 Objective To investigate the significance and signal transduction mechanism of copy number variation(CNV) of the PIK3 CA gene in patients with ovarian cancer and cervical cancer. Methods The Cancer Genome Atlas database was used to obtain the mRNA expression matrix, CNV, and related genes of the PIK3 CA gene from 275 patients with cervical cancer and 201 patients with ovarian cancer, and a bioinformatics analysis was performed. Results There was a high CNV ratio of the PIK3 CA gene in ovarian cancer and cervical cancer. The clinicopathological analysis showed that the ovarian cancer patients with PIK3 CA gene amplification variation had poor prognosis, while among the cervical cancer patients with PIK3 CA gene amplification variation, there was a low proportion of the patients with a high pathological grade. Survival analysis showed that PIK3 CA gene amplification variation had no significant effect on disease-free survival and overall survival of patients with ovarian cancer and cervical cancer. KEGG analysis showed that similar signal pathways were activated between the cervical/ovarian cancer patients with PIK3 CA gene copy number amplification and those without CNV of the PIK3 CA gene, and PIK3 CA copy number amplification could activate the PI3 K-AKT signal pathway and promote the malignant transformation of ovarian and cervical epithelial cells. GO analysis showed that PIK3 CA gene copy number amplification significantly affected the biological process, molecular function, and components of cells. Conclusion CNV of the PIK3 CA gene is very common in ovarian cancer and cervical cancer, which can be used as a molecular indicator for clinical treatment.更多还原