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

Ophthalmology
Armin R AfsharBertil E Damato

Abstract

To determine the usefulness of a comprehensive, targeted-capture next-generation sequencing (NGS) assay for the clinical management of children undergoing enucleation for retinoblastoma. Cohort study. Thirty-two children with retinoblastoma. 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. Presence or absence of germline RB1 mutation or deletion, tumor genetic profile, and association of genetic alterations with clinicopathologic features. Germline mutation or deletion of the RB1 gene was identified in all children with bilateral retinoblastoma (n = 12), and these NGS results were 100% concordant with commercial germline RB1 mutation analysis. In tumor tissue tested with NGS, biallelic inactivation of RB1 was identified in 28 tumors and focal MYCN amplification was identified in 4 tumors (2 with wild-type RB1 and 2 with biallelic RB1 inactivation). Additional likely pathogenic alterations beyond RB1 were identi...Continue Reading

Citations

Aug 23, 2020·Cancers·Rossukon Kaewkhaw, Duangnate Rojanaporn
Feb 12, 2021·Cancers·Rosario AscheroGuillermo L Chantada
Nov 10, 2020·The American Journal of Surgical Pathology·David M MeredithJason L Hornick
May 19, 2021·Pediatric Blood & Cancer·Yogindra PersaudJeffrey W Taub
Jul 24, 2021·BMC Medical Genomics·Himika GuptaGovindasamy Kumaramanickavel
Sep 4, 2021·Experimental Eye Research·Vanessa MendonçaHéctor N Seuánez

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