ArticleScientific reports2016
Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers.
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60 citing papers in PubMed, 115 citations in OpenAlex.
- Retinal organoid screening reveals ABT-737 and luminespib as potential agents against a cone- precursor-derived subtype of retinoblastoma.Molecular therapy. Oncology · 2026Article
- BCOR Mutations Deregulate Cell Cycle and Hypoxic Adaptation Pathways in Retinoblastoma.Molecular cancer research : MCR · 2026Article
- Expanding the RB1 variant landscape of heritable retinoblastoma: unlocking precision oncology potential in Southern Africa.BMC cancer · 2026Article
- The trends of retinoblastoma research in the past decade.International journal of ophthalmology · 2026Article
- Recurrent genetic alterations in epigenetically defined pineoblastoma subtypes.Acta neuropathologica communications · 2025Article
- BCOR loss promotes both retinoblastoma growth and susceptibility to IGF1R inhibition.Neuro-oncology · 2025Article
- Spatial transcriptomics of retinoblastoma: a visual window on intra-patient heterogeneity.BMC cancer · 2025Article
- Tumor heterogeneity in retinoblastoma: a literature review.Cancer metastasis reviews · 2025Review
- Minimal Requirements for Cancer Initiation: A Comparative Consideration of Three Prototypes of Human Leukemia.Cancers · 2024Review
- Investigating druggable kinases for targeted therapy in retinoblastoma.Journal of human genetics · 2024Article
- A MYCN-driven de-differentiation profile identifies a subgroup of aggressive retinoblastoma.Communications biology · 2024Article
- Aqueous Humor Liquid Biopsy as a Companion Diagnostic for Retinoblastoma: Implications for Diagnosis, Prognosis, and Therapeutic Options: Five Years of Progress.American journal of ophthalmology · 2024Observational
- Retinoblastoma with MYCN Amplification Diagnosed from Cell-Free DNA in the Aqueous Humor.Ocular oncology and pathology · 2024Article
- Identification of dysregulation of sphingolipids in retinoblastoma using liquid chromatography-mass spectrometry.Experimental eye research · 2024Article
- Correlating somatic copy number alteration in aqueous humour cfDNA with chemotherapy history, eye salvage and pathological features in retinoblastoma.The British journal of ophthalmology · 2024Article
- Children's Oncology Group's 2023 blueprint for research: Rare tumors.Pediatric blood & cancer · 2023Article
- Retinoblastoma: A review of the molecular basis of tumor development and its clinical correlation in shaping future targeted treatment strategies.Indian journal of ophthalmology · 2023Review
- Simultaneous Copy Number Alteration and Single-Nucleotide Variation Analysis in Matched Aqueous Humor and Tumor Samples in Children with Retinoblastoma.International journal of molecular sciences · 2023Article
- Non-synonymous, synonymous, and non-coding nucleotide variants contribute to recurrently altered biological processes during retinoblastoma progression.Genes, chromosomes & cancer · 2023Article
- Follow-up of intraocular retinoblastoma through the quantitative analysis of conserved nuclear DNA sequences in aqueous humor from patients.The journal of pathology. Clinical research · 2023Article
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Authors and funding
14 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Retinoblastoma is a rare childhood cancer initiated by RB1 mutation or MYCN amplification, while additional alterations may be required for tumor development. However, the view on single nucleotide variants is very limited. To better understand oncogenesis, we determined the genomic landscape of retinoblastoma. We performed exome sequencing of 71 retinoblastomas and matched blood DNA. Next, we determined the presence of single nucleotide variants, copy number alterations and viruses. Aside from RB1, recurrent gene mutations were very rare. Only a limited fraction of tumors showed BCOR (7/71, 10%) or CREBBP alterations (3/71, 4%). No evidence was found for the presence of viruses. Instead, specific somatic copy number alterations were more common, particularly in patients diagnosed at later age. Recurrent alterations of chromosomal arms often involved less than one copy, also in highly pure tumor samples, suggesting within-tumor heterogeneity. Our results show that retinoblastoma is among the least mutated cancers and signify the extreme sensitivity of the childhood retina for RB1 loss. We hypothesize that retinoblastomas arising later in retinal development benefit more from subclonal secondary alterations and therefore, these alterations are more selected for in these tumors. Targeted therapy based on these subclonal events might be insufficient for complete tumor control.
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