ArticleOncotarget2014
RB1 gene inactivation by chromothripsis in human retinoblastoma.
Article in Oncotarget, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 1 of them a synthesis that pooled it.
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Who cites it
59 citing papers in PubMed, 1 synthesis or guideline pooled it, 117 citations in OpenAlex.
- Incidence, mortality, and survival trends of retinoblastoma in children: a systematic review and meta-analysis of population-based studies.Italian journal of pediatrics · 2026Pooled it
- BCOR Mutations Deregulate Cell Cycle and Hypoxic Adaptation Pathways in Retinoblastoma.Molecular cancer research : MCR · 2026Article
- Injectable hydrogel-mediated co-delivery of oncolytic adenovirus and melphalan for retinoblastoma control and vision preservation.Acta pharmaceutica Sinica. B · 2025Article
- A Complex Case of Retinoblastoma Solved by the Combined Approach of Humor/Plasma cfDNA-NGS and LR-WGS.Genes · 2025Article
- Metastatic Melanoma in a Retinoblastoma Survivor: Can Immunohistochemistry Save the Day?Cureus · 2025Article
- RB1 expression and HR proficiency define a poor prognosis subtype of high grade serous ovarian cancer.Scientific reports · 2025Article
- Tumor heterogeneity in retinoblastoma: a literature review.Cancer metastasis reviews · 2025Review
- Chromothripsis.Methods in molecular biology (Clifton, N.J.) · 2025Review
- A MYCN-driven de-differentiation profile identifies a subgroup of aggressive retinoblastoma.Communications biology · 2024Article
- Retinoblastoma: An update on genetic origin, classification, conventional to next-generation treatment strategies.Heliyon · 2024Review
- Scrambling the genome in cancer: causes and consequences of complex chromosome rearrangements.Nature reviews. Genetics · 2024Review
- Inhibition of high level E2F in a RB1 proficient MYCN overexpressing chicken retinoblastoma model normalizes neoplastic behaviour.Cellular oncology (Dordrecht, Netherlands) · 2024Article
- The Use of rAAV2-RB1-Mediated Gene Therapy in Retinoblastoma.Investigative ophthalmology & visual science · 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
- Non-synonymous, synonymous, and non-coding nucleotide variants contribute to recurrently altered biological processes during retinoblastoma progression.Genes, chromosomes & cancer · 2023Article
- E2F1/CKS2/PTEN signaling axis regulates malignant phenotypes in pediatric retinoblastoma.Cell death & disease · 2022Article
- MYCN induces cell-specific tumorigenic growth in RB1-proficient human retinal organoid and chicken retina models of retinoblastoma.Oncogenesis · 2022Article
- Genome maintenance in retinoblastoma: Implications for therapeutic vulnerabilities.Oncology letters · 2022Review
- The OncogeneCancers · 2021Article
- Poly ADP Ribose Polymerase Inhibitor Olaparib Targeting Microhomology End Joining in Retinoblastoma Protein Defective Cancer: Analysis of the Retinoblastoma Cell-Killing Effects by Olaparib after Inducing Double-Strand Breaks.International journal of molecular sciences · 2021Article
Corrections and comments
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Authors and funding
27 authors at 4 institutions in 1 country.
Funding
Abstract
Retinoblastoma is a rare childhood cancer of the developing retina. Most retinoblastomas initiate with biallelic inactivation of the RB1 gene through diverse mechanisms including point mutations, nucleotide insertions, deletions, loss of heterozygosity and promoter hypermethylation. Recently, a novel mechanism of retinoblastoma initiation was proposed. Gallie and colleagues discovered that a small proportion of retinoblastomas lack RB1 mutations and had MYCN amplification [1]. In this study, we identified recurrent chromosomal, regional and focal genomic lesions in 94 primary retinoblastomas with their matched normal DNA using SNP 6.0 chips. We also analyzed the RB1 gene mutations and compared the mechanism of RB1 inactivation to the recurrent copy number variations in the retinoblastoma genome. In addition to the previously described focal amplification of MYCN and deletions in RB1 and BCOR, we also identified recurrent focal amplification of OTX2, a transcription factor required for retinal photoreceptor development. We identified 10 retinoblastomas in our cohort that lacked RB1 point mutations or indels. We performed whole genome sequencing on those 10 tumors and their corresponding germline DNA. In one of the tumors, the RB1 gene was unaltered, the MYCN gene was amplified and RB1 protein was expressed in the nuclei of the tumor cells. In addition, several tumors had complex patterns of structural variations and we identified 3 tumors with chromothripsis at the RB1 locus. This is the first report of chromothripsis as a mechanism for RB1 gene inactivation in cancer.
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Registered trials
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