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High-Level MYCN-Amplified RB1-Proficient Retinoblastoma Tumors Retain Distinct Molecular Signatures

20 Jun 2022

Abstract excerpt

Purpose Retinoblastomas are malignant eye tumors diagnosed in young children. Most retinoblastomas are genetically characterized by biallelic inactivation of the RB1 gene. However, 1.5% of tumors demonstrate high-level amplification of the proto-oncogene MYCN . Patients with MYCN -amplified RB1 -proficient retinoblastoma receive a diagnosis at an earlier age and show a clinically and histologically more malignant...

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PMID: 36245757
DOI: 10.1016/j.xops.2022.100188

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