Department of Paediatric Neurology, Zibo Central Hospital, Zibo, Shandong, China.
Department of Neurosurgery, Zibo Central Hospital, Zibo, Shandong, China.
Medicine (Baltimore). 2023 Apr 21;102(16):e33591. doi: 10.1097/MD.0000000000033591.
Medulloblastoma (MB) is one of the most frequent malignant brain tumors in children. The metastasis of MB outside the nervous system is associated with a poor prognosis. Our study aimed to explore the genes correlated with metastasis in MB. Using the data downloaded from the gene expression omnibus database, the differentially expressed genes were identified between the metastatic and nonmetastatic samples in MB, which were undergone functional enrichment. Prognosis related genes were identified using univariate Cox regression analysis. The gene set enrichment analysis was conducted to find MB metastasis related pathways. A total of 196 differentially expressed genes were identified between metastatic and nonmetastatic samples in MB patients, and these genes were significantly enriched in 483 gene ontology terms and 29 Kyoto encyclopedia of genes and genomes pathways. In addition, univariate Cox regression analysis screened the top 10 genes (CEMIP, GLCE, ART3, GABRA5, COLEC12, LIN28B, ZNF521, IL17RB, Fas apoptotic inhibitory molecule 2 (FAIM2), RCBTB2) that were significantly associated with survival of MB, among which FAIM2 was prominently expressed in cerebral cortex, cerebellum and hippocampus. The expression of FAIM2 was decreased in metastatic MB samples, and FAIM2 harbored missense mutations, amplifications and deep deletions in metastatic samples of MB. Moreover, a total of 25 pathways were significantly activated and 41 pathways were significantly inhibited in FAIM2 high expression group compared to FAIM2 low expression group in MB patients. FAIM2 was tightly correlated with metastasis in MB patients, and the low expression of FAIM2 was associated with poor prognosis.
髓母细胞瘤(MB)是儿童中最常见的恶性脑肿瘤之一。MB 神经系统外转移与预后不良相关。我们的研究旨在探索与 MB 转移相关的基因。使用从基因表达综合数据库下载的数据,鉴定 MB 转移和非转移样本之间的差异表达基因,并进行功能富集。使用单变量 Cox 回归分析鉴定与预后相关的基因。进行基因集富集分析以发现与 MB 转移相关的途径。在 MB 患者的转移性和非转移性样本之间共鉴定到 196 个差异表达基因,这些基因在 483 个基因本体论术语和 29 个京都基因与基因组百科全书途径中显著富集。此外,单变量 Cox 回归分析筛选出与 MB 生存显著相关的前 10 个基因(CEMIP、GLCE、ART3、GABRA5、COLEC12、LIN28B、ZNF521、IL17RB、Fas 凋亡抑制分子 2(FAIM2)、RCBTB2),其中 FAIM2 在大脑皮层、小脑和海马体中表达明显。转移性 MB 样本中 FAIM2 的表达降低,并且在转移性 MB 样本中 FAIM2 存在错义突变、扩增和深度缺失。此外,与 FAIM2 低表达组相比,在 MB 患者中,FAIM2 高表达组中共有 25 条途径显著激活,41 条途径显著抑制。FAIM2 与 MB 患者的转移密切相关,FAIM2 的低表达与预后不良相关。