Genomic characterization of retinoblastoma
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ABSTRACT:
PROVIDER: EGAS00001005248 | EGA |
REPOSITORIES: EGA
Similar Datasets
Project description:We studied primary retinoblastoma by targeted sequencing.
| EGAS00001005550 | EGA
Project description:Retinoblastoma is the most common intraocular cancer of infancy and childhood, with an incidence of one case per 15,000 - 20,000 live births. An early event in retinoblastoma genesis is a functional loss of both alleles of the RB1 gene. However, other genes are likely to be involved in the development of this cancer. In this study we sought to build a comprehensive molecular portrait of this cancer by performing transcriptomic, methylomic, as well as genomic profiling of primary retinoblastoma samples. The patients whose tumors were studied had received no treatment prior to surgical enucleation. This SuperSeries is composed of the SubSeries listed below.
2021-07-06 | GSE58785 | GEO
Project description:Pan-genomic study of primary human retinoblastoma samples
| PRJNA253480 | ENA
Project description:Retinoblastoma is the most common intraocular cancer of infancy and childhood, with an incidence of one case per 15,000 - 20,000 live births. An early event in retinoblastoma genesis is a functional loss of both alleles of the RB1 gene. However, other genes are likely to be involved in the development of this cancer. In this study we sought to build a comprehensive molecular portrait of this cancer by performing transcriptomic, methylomic, genomic profiling of primary retinoblastoma samples. Most of the patients whose tumors were studied had received no treatment prior to surgical enucleation.
2021-07-06 | GSE58780 | GEO
Project description:Retinoblastoma is the most common intraocular cancer of infancy and childhood, with an incidence of one case per 15,000 - 20,000 live births. An early event in retinoblastoma genesis is a functional loss of both alleles of the RB1 gene. However, other genes are likely to be involved in the development of this cancer. In this study we sought to build a comprehensive molecular portrait of this cancer by performing transcriptomic, methylomic, genomic profiling of primary retinoblastoma samples. Most of the patients whose tumors were studied had received no treatment prior to surgical enucleation.
2021-07-06 | GSE58783 | GEO
Project description:Retinoblastoma is the most common intraocular cancer of infancy and childhood, with an incidence of one case per 15,000 - 20,000 live births. An early event in retinoblastoma genesis is a functional loss of both alleles of the RB1 gene. However, other genes are likely to be involved in the development of this cancer. In this study we sought to build a comprehensive molecular portrait of this cancer by performing transcriptomic, methylomic, genomic profiling of primary retinoblastoma samples. Most of the patients whose tumors were studied had received no treatment prior to surgical enucleation.
2021-07-06 | GSE58781 | GEO
Project description:Retinoblastoma is the most common intraocular cancer of infancy and childhood, with an incidence of one case per 15,000 - 20,000 live births. An early event in retinoblastoma genesis is a functional loss of both alleles of the RB1 gene. However, other genes are likely to be involved in the development of this cancer. In this study we sought to build a comprehensive molecular portrait of this cancer by performing transcriptomic, methylomic, genomic profiling of primary retinoblastoma samples. Most of the patients whose tumors were studied had received no treatment prior to surgical enucleation.
2021-07-06 | GSE58784 | GEO
Project description:Background: Retinoblastoma is a rare pediatric eye cancer caused by mutations in the RB1 gene, which regulates retinal cell growth. Early detection and treatment are critical for pre-venting vision loss and improving survival outcomes. This study aimed to perform an inte-grated proteotranscriptomic characterization of human retinoblastoma to provide a deeper understanding of disease biology and to identify novel therapeutic targets. Methods: Paired tumor and adjacent retinal tissue samples were dissected from seven eyes affected by retinoblastoma. The global transcriptome and proteome were determined using RNA sequencing and liquid chromatography-mass spectrometry from the same samples. The spatially resolved cellular landscape was assessed using Imaging Mass Cytometry (IMC). Results: The correlation between RNA and protein level was moderate (Pearson’s R = 0.339, p < 10-16) with variations across different pathways. While biological processes like visual perception were similarly regulated on the RNA and protein level, others, such as cell cycle processes and glycolysis were predominantly active at the protein level. IMC identified more than 67,000 single cells in distinct clusters, including antigen presenting cells, T cells, stroma cells, vascular cells and two clusters of proliferating and CD44/c-Myc positive tumor cells. In retinoblastoma, we observed increased apoptotic signals in T cells and higher ex-pression of CD68 in antigen presenting cells compared to control tissue. Conclusions: Retinoblastoma's key biological processes are predominantly regulated at either the RNA or protein level, underscoring the value of an integrated proteotranscriptomic approach. Elevated caspase 3 activity in tumor-associated T cells may indicate potential im-mune escape mechanisms and CD44+ and high-c-Myc-expressing tumor cells may repre-sent cancer stem cells with possible involvement in metastasis, warranting further validation. Our multilayered approach could pave the way for enhanced molecular assessments and novel targeted therapies for human retinoblastoma.
2025-05-29 | GSE276895 | GEO
Project description:We studied a primary retinoblastoma sample with single-cell RNA-seq (10X genomics Chromium V2).
| EGAS00001005178 | EGA
Project description:In order to identify the gene targets of frequently altered chromosomal regions in retinoblastoma, a meta-analysis of genome-wide copy number alterations studies on primary retinoblastoma tissue and retinoblastoma cell lines was performed. Published studies were complemented by copy number and gene expression analysis on primary and cell line samples of retinoblastoma. This dataset includes the gene expression data of the retinoblastoma cell lines
2016-03-31 | GSE77094 | GEO