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Published on: January 12, 2020
Exploration of potential key pathways and genes in multiple ocular cancers through bioinformatics analysis
1Department of Ophthalmology, The People's Hospital of Leshan, Leshan, 614000, China.
Purpose:
Primary cancers of the eye are common in ocular diseases. The objective of this study was to explore the underlying mechanisms and the potential target genes in multiple ocular cancers by bioinformatics approach.
Method:
These gene expression profiles of GSE24673 (Retinoblastoma), GSE44295 (Uveal melanoma), and GSE103439 (Basal cell carcinoma of the eyelid) were downloaded from Gene Expression Omniniub (GEO) database. The differentially expressed genes (DEGs) in the three gene chips were identified by limma package in R software and gene integration was performed by using "RobustRankAggreg" package. Gene set enrichment analysis (GSEA) and the Gene Ontology (GO) were performed to the selected genes. Moreover, survival analysis was used to estimate uveal melanoma dataset.
Results:
In total, 509 DEGs were identified in GSE24673 (retinoblastoma), 305 DEGs were identified in GSE44295 (uveal melanoma), and 753 DEGs were identified in GSE103439 (basal cell carcinoma of the eyelid). Among those genes, only IGF2BP3 was shared for the three cancer types. A total of 20 DEGs were identified through gene integration (score < 0.05) and IGF2BP3 was ranked the top. Moreover, GO analysis results showed that the 20 DEGs were significantly enriched in WNT signaling pathway, DNA damage, and apoptotic process. GSEA showed that pathways related with cellular respiratory chain are differentially enriched in IGF2BP3 low expression phenotype. Finally, two genes (ID3 and SLC6A15) can predict the overall survival in uveal melanoma patients.
Conclusions:
This findings and results of study showed that the identification of DEGs and key pathways gives a promotion to understand the molecular mechanisms underlying the development of ocular cancers, which contribute to a more comprehensive understanding of cancers of the eye and provide new insights for these studies at gene level.
Insights
This study identified IGF2BP3 as a shared gene across multiple ocular cancers, including retinoblastoma and uveal melanoma. These findings offer new molecular insights into eye cancer development and potential therapeutic targets.
Area of Science:
- Ophthalmology
- Oncology
- Bioinformatics
Background:
- Primary eye cancers represent a significant clinical challenge in ophthalmology.
- Understanding the molecular underpinnings of ocular malignancies is crucial for developing targeted therapies.
Purpose of the Study:
- To explore the molecular mechanisms and identify potential target genes in multiple ocular cancers using a bioinformatics approach.
- To investigate shared genetic factors across retinoblastoma, uveal melanoma, and basal cell carcinoma of the eyelid.
Main Methods:
- Downloaded gene expression profiles from the Gene Expression Omnibus (GEO) database (GSE24673, GSE44295, GSE103439).
- Identified differentially expressed genes (DEGs) using R software and integrated findings with RobustRankAggreg.
- Performed Gene Set Enrichment Analysis (GSEA) and Gene Ontology (GO) analysis, along with survival analysis for uveal melanoma.
Main Results:
- Identified 509 DEGs in retinoblastoma, 305 in uveal melanoma, and 753 in basal cell carcinoma.
- IGF2BP3 was the sole shared DEG across all three ocular cancer types.
- Enrichment analysis revealed significant involvement of WNT signaling, DNA damage, and apoptotic processes; ID3 and SLC6A15 predicted uveal melanoma survival.
Conclusions:
- The identification of DEGs and key pathways enhances the understanding of ocular cancer molecular mechanisms.
- These findings provide novel gene-level insights for future research into cancers of the eye.
- IGF2BP3 and other identified pathways may serve as potential therapeutic targets for ocular malignancies.
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