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Updated: Nov 18, 2025
06:52
Reconstruct Human Retinoblastoma In Vitro
Published on: October 11, 2022
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Recurrent Somatic Chromosomal Abnormalities in Relapsed Extraocular Retinoblastoma
Rosario Aschero1,2, Jasmine H Francis3, Daiana Ganiewich4
1Pathology Service, Hospital de Pediatría JP Garrahan, Buenos Aires 1245, Argentina.
Cancers
|February 11, 2021
Summary
Copy number alterations (CNA) are more prevalent in extraocular retinoblastoma relapse cases than previously reported. Specific CNA, including 11q deletions and BCOR alterations, are linked to aggressive tumors in these patients.
Area of Science:
- Oncology
- Genetics
- Ophthalmology
Background:
- Most retinoblastoma research focuses on intraocular disease.
- Features of extraocular relapse in retinoblastoma remain largely unknown.
Purpose of the Study:
- To describe copy number alterations (CNA) in retinoblastoma patients with extraocular relapse.
- To identify CNA associated with aggressive tumor behavior in this population.
Main Methods:
- Analysis of 23 patients and 27 specimens from 4 centers with extraocular retinoblastoma relapse.
- Utilized SNP array, whole-exome sequencing, IMPACT panel, and CGH array for CNA and BCOR gene alteration analysis.
Main Results:
- All cases exhibited a higher prevalence of CNA compared to intraocular retinoblastoma.
- Common CNA included gains in 1q, 2p, 6p, and loss of 16q.
- Frequent CNA in extraocular relapse: 11q deletions (34.8%), 17q gains (56.5%), 19q loss (30.4%), and BCOR alterations (72.7%).
Conclusions:
- Extraocular retinoblastoma shows a high number of CNA, including 11q deletions, 17q gains, 19q loss, and BCOR alterations.
- These CNA are more common in extraocular relapse and may indicate a more aggressive tumor.
- Identification of these genetic features could inform patient management strategies.
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