ArticleInternational journal of molecular sciences2025
Retinoblastoma: Molecular Evaluation of Tumor Samples, Aqueous Humor, and Peripheral Blood Using a Next-Generation Sequence Panel.
Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Integrative Genomic Mapping and Visualization From Curated Public Datasets Reveals Germline RB1 Variant Diversity in Retinoblastoma.Investigative ophthalmology & visual science · 2026Article
- Digital PCR Quantification of a CirculatingInternational journal of molecular sciences · 2026Article
- Prospective implementation of an aqueous humor liquid biopsy platform informs clinical diagnosis and management of retinoblastoma and other intraocular lesions.NPJ precision oncology · 2026Article
- A Complex Case of Retinoblastoma Solved by the Combined Approach of Humor/Plasma cfDNA-NGS and LR-WGS.Genes · 2025Article
- Blood-Based Cell-Free DNA in Ophthalmic Oncology.Translational vision science & technology · 2025Review
- Global research landscape of retinoblastoma biomarkers: a multidisciplinary bibliometric analysis based on multiple databases (2005-2025).Journal of cancer research and clinical oncology · 2025Article
- Biopsy of Iris and Anterior Chamber Tumours: Fine Needle, Minimally Invasive and Excision Techniques - Review.Clinical & experimental ophthalmologyReview
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
Retinoblastoma was one of the first malignant tumors to be described as a genetic disease and its development occurs from the loss of function of the retinoblastoma gene (RB1). The difficulty in accessing the tumor during diagnosis highlights the need for non-invasive diagnostic methods. Studies have shown that liquid biopsy, obtained from any fluid material in the body, for example blood, contains free tumor cells and free and circulating DNA or RNA, making it a convenient tool for diagnosis and prognosis during cancer treatment without the need for invasive procedures. Taking advantage of these events, given this situation, we investigated molecular alterations in samples from retinoblastoma cases, using the NGS strategy as a powerful tool for characterization and aid in diagnosis and prognosis. Genomic data from 76 patients diagnosed with retinoblastoma, comprising 162 samples, tumor (TU), aqueous humor (AH), and peripheral blood (PB), were analyzed using the Oncomine Childhood Cancer Research Panel (OCCRA
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Registered trials
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