ArticleCancer science2009
Array comparative genomic hybridization in retinoma and retinoblastoma tissues.
Article in Cancer science, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 citations in OpenAlex.
- A Meta-Analysis of Retinoblastoma Copy Numbers Refines the List of Possible Driver Genes Involved in Tumor Progression.PloS one · 2016Pooled it
- Epigenetic Factor Dysregulation and Distinct Expression Signatures in Retinoblastoma: A Transcriptomic Analysis.Investigative ophthalmology & visual science · 2026Article
- Retinocytoma: Clinical and Genetic Characteristics in 16 Pediatric and Adult Cases.Ocular oncology and pathology · 2025Article
- Retinoma: An overview.Pediatric investigation · 2025Review
- Tumor heterogeneity in retinoblastoma: a literature review.Cancer metastasis reviews · 2025Review
- Single-cell transcriptomics enable the characterization of local extension in retinoblastoma.Communications biology · 2024Article
- Histopathology and molecular pathology of pediatric pineal parenchymal tumors.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2023Review
- RB1 loss triggers dependence on ESRRG in retinoblastoma.Science advances · 2022Article
- A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression.Nature communications · 2021Article
- Comprehensive Somatic Copy Number Analysis Using Aqueous Humor Liquid Biopsy for Retinoblastoma.Cancers · 2021Article
- Article
- Variability in retinoblastoma genome stability is driven by age and not heritability.Genes, chromosomes & cancer · 2020Article
- Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
- Retinoblastoma: Etiology, Modeling, and Treatment.Cancers · 2020Review
- Genomic and Transcriptomic Tumor Heterogeneity in Bilateral Retinoblastoma.JAMA ophthalmology · 2020Article
- Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.European journal of human genetics : EJHG · 2015Article
- Loss of photoreceptorness and gain of genomic alterations in retinoblastoma reveal tumor progression.EBioMedicine · 2015Article
- Epigenetic and copy number variation analysis in retinoblastoma by MS-MLPA.Pathology oncology research : POR · 2012Article
- Retinoblastoma: Recent trends A mini review based on published literature.Oman journal of ophthalmology · 2011Article
- Investigation of modifier genes within copy number variations in Rett syndrome.Journal of human genetics · 2011Article
Corrections and comments
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Authors and funding
19 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In retinoblastoma, two RB1 mutations are necessary for tumor development. Recurrent genomic rearrangements may represent subsequent events required for retinoblastoma progression. Array-comparative genomic hybridization was carried out in 18 eye samples, 10 from bilateral and eight from unilateral retinoblastoma patients. Two unilateral cases also showed areas of retinoma. The most frequent imbalance in retinoblastomas was 6p gain (40%), followed by gains at 1q12-q25.3, 2p24.3-p24.2, 9q22.2, and 9q33.1 and losses at 11q24.3, 13q13.2-q22.3, and 16q12.1-q21. Bilateral cases showed a lower number of imbalances than unilateral cases (P = 0.002). Unilateral cases were divided into low-level (< or = 4) and high-level (> or = 7) chromosomal instability groups. The first group presented with younger age at diagnosis (mean 511 days) compared with the second group (mean 1606 days). In one retinoma case ophthalmoscopically diagnosed as a benign lesion no rearrangements were detected, whereas the adjacent retinoblastoma displayed seven aberrations. The other retinoma case identified by retrospective histopathological examination shared three rearrangements with the adjacent retinoblastoma. Two other gene-free rearrangements were retinoma specific. One rearrangement, dup5p, was retinoblastoma specific and included the SKP2 gene. Genomic profiling indicated that the first retinoma was a pretumoral lesion, whereas the other represents a subclone of cells bearing 'benign' rearrangements overwhelmed by another subclone presenting aberrations with higher 'oncogenic' potential. In summary, the present study shows that bilateral and unilateral retinoblastoma have different chromosomal instability that correlates with the age of tumor onset in unilateral cases. This is the first report of genomic profiling in retinoma tissue, shedding light on the different nature of lesions named 'retinoma'.
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