MyGenostics Inc., Beijing, China.
Department of Ophthalmology, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
J Int Med Res. 2024 Jul;52(7):3000605241258171. doi: 10.1177/03000605241258171.
Apart from the role of the retinoblastoma gene, the genomic events associated with poor outcomes in patients with ophthalmic tumors are poorly understood.
We retrospectively analyzed 48 patients with six types of ophthalmic tumors. We searched for high-frequency mutated genes and susceptibility genes in these patients using combined exome and transcriptome analysis.
We identified four clearly causative genes (). Susceptibility gene analysis identified hotspot genes, including , and , and high-frequency gene analysis identified several genes, including , and . Transcriptome analysis identified 5868 differentially expressed genes, of which and were upregulated in all samples, while , , , and were downregulated. Kyoto Encyclopedia of Genes and Genomes enrichment analysis indicated that the phosphoinositide 3-kinase (PI3K)-Akt and Transcriptional misregulation in cancer signaling pathways may be involved in ophthalmic tumorigenesis.
is clearly involved in ophthalmic tumorigenesis, especially in basal cell carcinoma, and the PI3K-Akt signaling pathway may be an essential pathway involved in ophthalmic tumorigenesis. , and are also highly likely to be involved in ophthalmic tumorigenesis, but further functional experiments are needed to verify the mechanisms of these genes in regulating tumorigenesis.
除了视网膜母细胞瘤基因的作用外，眼部肿瘤患者预后不良相关的基因组事件尚不清楚。
我们回顾性分析了 48 例 6 种眼部肿瘤患者。我们使用组合外显子组和转录组分析，在这些患者中寻找高频突变基因和易感性基因。
我们确定了四个明确的致病基因（）。易感性基因分析确定了热点基因，包括、和，高频基因分析确定了几个基因，包括、和。转录组分析鉴定了 5868 个差异表达基因，其中在所有样本中上调的有和，而、、和则下调。京都基因与基因组百科全书富集分析表明，磷酸肌醇 3-激酶（PI3K）-Akt 和转录失调致癌信号通路可能参与眼部肿瘤的发生。
明显参与眼部肿瘤的发生，特别是基底细胞癌，PI3K-Akt 信号通路可能是眼部肿瘤发生的一个重要途径。、和也很可能参与眼部肿瘤的发生，但需要进一步的功能实验来验证这些基因在调节肿瘤发生中的机制。
