Single-cell somatic copy number alteration profiling of vitreous humor seeds in retinoblastoma.

ABSTRACT:

Background

Heterogeneity can impact biomarker identification. Thus, we investigated the somatic copy number alterations (SCNAs) of individual tumor cells in the vitreous humor of a retinoblastoma patient using single-cell whole-genome profiling and explored the genomic concordance among vitreous and aqueous humor, vitreous seeds, and tumor.

Methods

Aqueous humor (AH), vitreous humor (VH), and tumor biopsy were obtained from an enucleated globe with retinoblastoma and vitreous seeding. Micromanipulation was used to manually isolate 39 live single tumor cells from vitreous seeds harvested from the VH. The SCNA profiles of these individual cells were generated via whole-genome sequencing and analyzed alongside profiles from the tumor mass and cell-free DNA (cfDNA) from AH and V

SUBMITTER: Sirivolu S 

PROVIDER: S-EPMC11598666 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature