Next-Generation Sequencing of Retinoblastoma Identifies Pathogenic Alterations beyond RB1 Inactivation That Correlate with Aggressive Histopathologic Features.

ABSTRACT:

Purpose

To determine the usefulness of a comprehensive, targeted-capture next-generation sequencing (NGS) assay for the clinical management of children undergoing enucleation for retinoblastoma.

Design

Cohort study.

Participants

Thirty-two children with retinoblastoma.

Methods

We performed targeted NGS using the UCSF500 Cancer Panel (University of California, San Francisco, San Francisco, CA) on formalin-fixed, paraffin-embedded tumor tissue along with constitutional DNA isolated from peripheral blood, buccal swab, or uninvolved optic nerve. Peripheral blood samples were also sent to a commercial laboratory for germline RB1 mutation testing.

Main outcome measures

Presence or absence of germline RB1 mutation or deletion, tumor genetic profile, and associa

SUBMITTER: Afshar AR 

PROVIDER: S-EPMC7246167 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature