Dataset Information

Variability in retinoblastoma genome stability is driven by age and not heritability.

ABSTRACT: Retinoblastoma (RB) is a childhood intraocular cancer initiated by biallelic inactivation of the RB tumor suppressor gene (RB1-/- ). RB can be hereditary (germline RB1 pathogenic allele is present) or non-hereditary. Somatic copy number alterations (SCNAs) contribute to subsequent tumorigenesis. Previous studies of only enucleated RB eyes have reported associations between heritability status and the prevalence of SCNAs. Herein, we use an aqueous humor (AH) liquid biopsy to investigate RB genomic profiles in the context of germline RB1 status, age, and International Intraocular Retinoblastoma Classification (IIRC) clinical grouping for both enucleated and salvaged eyes. Between 2014 and 2019, AH was sampled from a total of 54 eyes of 50 patients. Germline RB1 status was determined from clinical blood testing, and cell-free DNA from AH was analyzed for SCNAs. Of the 50 patients, 23 (46.0%; 27 eyes) had hereditary RB, and 27 (54.0%, 27 eyes) had non-hereditary RB. Median age at diagnosis was comparable between hereditary (13?±?10 months) and non-hereditary (13?±?8 months) eyes (P = 0.818). There was no significant difference in the prevalence or number of SCNAs based on (1) hereditary status (P?>?0.56) or (2) IIRC grouping (P?>?0.47). There was, however, a significant correlation between patient age at diagnosis, and (1) number of total SCNAs (r[52] = 0.672, P?

SUBMITTER: Polski A

PROVIDER: S-EPMC7441809 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature

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Variability in retinoblastoma genome stability is driven by age and not heritability.

Polski Ashley A Xu Liya L Prabakar Rishvanth K RK Gai Xiaowu X Kim Jonathan W JW Shah Rachana R Jubran Rima R Kuhn Peter P Cobrinik David D Hicks James J Berry Jesse L JL

Genes, chromosomes & cancer 20200609 10

Retinoblastoma (RB) is a childhood intraocular cancer initiated by biallelic inactivation of the RB tumor suppressor gene (RB1<sup>-/-</sup> ). RB can be hereditary (germline RB1 pathogenic allele is present) or non-hereditary. Somatic copy number alterations (SCNAs) contribute to subsequent tumorigenesis. Previous studies of only enucleated RB eyes have reported associations between heritability status and the prevalence of SCNAs. Herein, we use an aqueous humor (AH) liquid biopsy to investigat ...[more]

PMID: 32390242

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Dataset Information

Variability in retinoblastoma genome stability is driven by age and not heritability.

Publications

Variability in retinoblastoma genome stability is driven by age and not heritability.

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