Study of Gene Expression Profile in Non-Invasive and Invasive Retinoblastoma
Ahmad Bereimipour1 , Monirehsadat Miri1 , Saeed Karimi2 , Amir abbas Hedayati Asl31 , Sara Taleahmad3 , Leila Satarian1 *
- Department of Stem Cells and Developmental Biology, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, ACECR, Tehran, Iran
- Ophthalmic Research Center, Department of Ophthalmology, Torfe Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
- Department of Molecular Systems Biology, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, ACECR, Tehran, Iran.
Abstract: Retinoblastoma (RB) is a malignant intraocular cancer of childhood with around 9,000 new cases a year(1). 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 RB1 gene mutation and paternal age play a significant role in RB invasion (2,3). RB late diagnosis cause to more enucleation in developing countries (4). The discovery of biomarkers 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 differentiating biomarkers concerning non-invasive and invasive phases.
Methods: We have specified the differentially expressed genes (DEGs) extracted from microarray libraries of non-invasive and invasive RB (GSE97508). Also, two miRNAs datasets in serum (GSE41321) and tissue (GSE7072) from GEO database and in-silico analysis were performed using enrichment databases such as Enrichr, KEGG, Panther, Targetscan and STRING on signaling pathway, gene ontology, protein and miRNAs networks.
Results: Our results show that, 184 genes were significantly downregulated and 127 genes upregulated In invasive group compared to non-invasive group. NTNG1 and COL4A1 were selected as upregulated genes due to their presence in extracellular matrix and GUCA1C and ARR3 as a downregulated genes. Among the expression profile of miRNAs in serum and tissues, miR-20a and 204, show the more accurate evaluations because they both are involved in invasion of 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.
