Recurrent Somatic Chromosomal Abnormalities in Relapsed Extraocular Retinoblastoma.

ABSTRACT: Most reports about copy number alterations (CNA) in retinoblastoma relate to patients with intraocular disease and features of children with extraocular relapse remain unknown, so we aimed to describe the CNA in this population. We evaluated 23 patients and 27 specimens from 4 centers. Seventeen cases had extraocular relapse after initial enucleation and six cases after an initial preservation attempt. We performed an analysis of CNA and BCOR gene alteration by SNP array (Single Nucleotide Polymorfism array), whole-exome sequencing, IMPACT panel and CGH array (Array-based comparative genomic hybridization). All cases presented CNA at a higher prevalence than those reported in previously published studies for intraocular cases. CNA previously reported for intraocular retinoblastoma were fou

SUBMITTER: Aschero R 

PROVIDER: S-EPMC7915502 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature