ArticleBMC cancer2015
Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.
Article in BMC cancer, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 26 citations in OpenAlex.
- Expanding the RB1 variant landscape of heritable retinoblastoma: unlocking precision oncology potential in Southern Africa.BMC cancer · 2026Article
- Case Report: A novel germline donor splicing site mutation ofFrontiers in oncology · 2025Article
- Epidemiology, Diagnosis and Genetics of Retinoblastoma: ICMR Consensus Guidelines.Indian journal of pediatrics · 2024Review
- Genetics in ophthalmology: molecular blueprints of retinoblastoma.Human genomics · 2023Review
- Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.Translational vision science & technology · 2022Article
- Frequency ofFrontiers in endocrinology · 2022Article
- Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma.Molecular and clinical oncology · 2021Article
- Retinoblastoma genetics screening and clinical management.BMC medical genomics · 2021Article
- Molecular Changes in Retinoblastoma beyondCancers · 2021Article
- Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders.Frontiers in genetics · 2020Article
- Review
- Update on pathology of retinoblastoma.International journal of ophthalmology · 2018Review
- Retinoblastoma and Neuroblastoma Predisposition and Surveillance.Clinical cancer research : an official journal of the American Association for Cancer Research · 2017Review
- Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort.Molecular vision · 2016Article
Corrections and comments
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Authors and funding
17 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRetinoblastoma (RB) is the most common malignant childhood tumor of the eye and results from inactivation of both alleles of the RB1 gene. Nowadays RB genetic diagnosis requires classical chromosome investigations, Multiplex Ligation-dependent Probe Amplification analysis (MLPA) and Sanger sequencing. Nevertheless, these techniques show some limitations. We report our experience on a cohort of RB patients using a combined approach of Next-Generation Sequencing (NGS) and RB1 custom array-Comparative Genomic Hybridization (aCGH).
methodsA total of 65 patients with retinoblastoma were studied: 29 cases of bilateral RB and 36 cases of unilateral RB. All patients were previously tested with conventional cytogenetics and MLPA techniques. Fifty-three samples were then analysed using NGS. Eleven cases were analysed by RB1 custom aCGH. One last case was studied only by classic cytogenetics. Finally, it has been tested, in a lab sensitivity assay, the capability of NGS to detect artificial mosaicism series in previously recognized samples prepared at 3 different mosaicism frequencies: 10, 5, 1 %.
resultsOf the 29 cases of bilateral RB, 28 resulted positive (96.5 %) to the genetic investigation: 22 point mutations and 6 genomic rearrangements (four intragenic and two macrodeletion). A novel germline intragenic duplication, from exon18 to exon 23, was identified in a proband with bilateral RB. Of the 36 available cases of unilateral RB, 8 patients resulted positive (22 %) to the genetic investigation: 3 patients showed point mutations while 5 carried large deletion. Finally, we successfully validated, in a lab sensitivity assay, the capability of NGS to accurately measure level of artificial mosaicism down to 1 %.
conclusionsNGS and RB1-custom aCGH have demonstrated to be an effective combined approach in order to optimize the overall diagnostic procedures of RB. Custom aCGH is able to accurately detect genomic rearrangements allowing the characterization of their extension. NGS is extremely accurate in detecting single nucleotide variants, relatively simple to perform, cost savings and efficient and has confirmed a high sensitivity and accuracy in identifying low levels of artificial mosaicisms.
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