Study of Gene Expression Profile in Non-Invasive and Invasive Retinoblastoma

Objective: Retinoblastoma (RB) is a malignant intraocular cancer of childhood with around ۹,۰۰۰ new cases a year. There are two kinds of RB: non-invasive and invasive, generally the later goes to morbidity and mortality due to secondary tumors. Family history in RB۱ gene mutation and paternal age play a significant role in RB invasion. RB late diagnosis cause to more enucleation in developing countries. The discovery of bi-omarkers and important signaling pathways for discrimination between invasive and non-invasive phases is necessary. In this study, by using the bioinformatics approach, we investigated the gene expression and microRNA profiling to find the dif-ferentiating biomarkers concerning non-invasive and invasive phases.Materials and Methods: We have specified the differentially expressed genes (DEGs) extracted from microarray librar-ies of non-invasive and invasive RB (GSE۹۷۵۰۸). Also, two miRNAs datasets in serum (GSE۴۱۳۲۱) and tissue (GSE۷۰۷۲) from GEO database and in-silico analysis were performed us-ing enrichment databases such as EnrichR, KEGG, Panther, TargetScan and STRING on signaling pathway, gene ontology, and protein and miRNAs networks.Results: Our results show that, ۱۸۴ genes were significantly downregulated and ۱۲۷ genes upregulated in invasive group compared to non-invasive. NTNG۱ and COL۴A۱ were selected as upregulated genes due to their presence in extracellular ma-trix and GUCA۱C and ARR۳ as downregulated genes. Among the expression profile of miRNAs in serum and tissues, miR-۲۰a and -۲۰۴, show the more accurate evaluations because they both are involved in MAPK, VEGF, TNF, Ras signaling and Cell adhesion molecules Which are associated with invasion retinoblastoma Conclusion: Using comprehensive bioinformatics analyzes, we could identify some genes and miRNAs as biomarkers in invasive and non-invasive retinoblastoma. Selected miRNAs by this study can be considered as biomarkers for improving the early detection of retinoblastoma.

کلیدواژه ها:

Retinoblastoma ، Non-Invasive ، Invasive ، Biomarker ، miRNAs