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Retinoblastoma with MYCN Amplification Diagnosed from Cell-Free DNA in the Aqueous Humor

25 Aug 2023

Abstract excerpt

Introduction: The objective of this study was to report the clinicopathologic features of three cases of MYCN-amplified retinoblastoma identified genetically by aqueous humor sampling. Methods: Whole-genome sequencing was performed using isolated cell-free DNA (cfDNA) from aqueous humor of 3 retinoblastoma patients. We analyzed genomic copy number and mutational alterations, histologic and pathologic features,...

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PMID: 38751495
DOI: 10.1159/000533311

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