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Retinoblastoma: Molecular Evaluation of Tumor Samples, Aqueous Humor, and Peripheral Blood Using a Next-Generation Sequence Panel

9 Apr 2025

Abstract excerpt

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...

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PMID: 40332023
DOI: 10.3390/ijms26083523

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