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

ABSTRACT:

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 phenotype. This study aimed to identify genome-wide molecular features that distinguish this subtype from other retinoblastomas.

Design

Cohort study.

Participants

Forty-seven retinoblastoma tumors, comprising 36 RB1 ^-/-, 4 RB1 ^+/-, and 7 RB1 ^+/+ tumors. In total, 5 retinoblastomas

SUBMITTER: Roohollahi K 

PROVIDER: S-EPMC9559112 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature