Your browser doesn't support javascript.
loading
Single-cell somatic copy number alteration profiling of vitreous humor seeds in retinoblastoma.
Sirivolu, Shreya; Schmidt, Michael J; Prabakar, Rishvanth K; Kuhn, Peter; Hicks, James; Berry, Jesse L; Xu, Liya.
Afiliação
  • Sirivolu S; The Vision Center, Children's Hospital Los Angeles, Los Angeles, California, USA.
  • Schmidt MJ; USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.
  • Prabakar RK; Convergent Science Institute in Cancer, Michelson Center for Convergent Bioscience, Dornsife College of Letters, Arts and Sciences, University of Southern California, Los Angeles, California, USA.
  • Kuhn P; Convergent Science Institute in Cancer, Michelson Center for Convergent Bioscience, Dornsife College of Letters, Arts and Sciences, University of Southern California, Los Angeles, California, USA.
  • Hicks J; Convergent Science Institute in Cancer, Michelson Center for Convergent Bioscience, Dornsife College of Letters, Arts and Sciences, University of Southern California, Los Angeles, California, USA.
  • Berry JL; Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
  • Xu L; The Saban Research Institute, Children's Hospital Los Angeles, Los Angeles, California, USA.
Ophthalmic Genet ; : 1-4, 2024 Jul 17.
Article em En | MEDLINE | ID: mdl-39016001
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 VH.

RESULTS:

Heatmap of VH single-cell SCNA profiles demonstrates heterogeneity among individual vitreous seeds with one clearly dominant subclone (23 of 37 cells). The SCNA profiles from the cells in this subclone demonstrate an average concordance of 98% with cfDNA profiles from acellular AH and VH and with the tumor profile.

CONCLUSIONS:

Our findings reveal some heterogeneity among single-cell SCNA profiles in individual VH seeds. Despite this heterogeneity, the dominant vitreous subclone exhibits extremely (>98%) high concordance with the SCNA profile from tumor and AH, suggesting AH cfDNA is representative of the dominant genomic subclone. This may facilitate tumoral biomarker identification via the AH. This preliminary work supports the potential of applying single-cell technology to VH seeds in retinoblastoma as a platform to study tumor subclones, which may provide insight into the genomic complexity of disease.
Palavras-chave

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Ophthalmic Genet Assunto da revista: GENETICA MEDICA / OFTALMOLOGIA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Ophthalmic Genet Assunto da revista: GENETICA MEDICA / OFTALMOLOGIA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Estados Unidos