دورية أكاديمية
Single-cell somatic copy number alteration profiling of vitreous humor seeds in retinoblastoma.
| العنوان: | Single-cell somatic copy number alteration profiling of vitreous humor seeds in retinoblastoma. |
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| المؤلفون: | Sirivolu S; The Vision Center, Children's Hospital Los Angeles, Los Angeles, California, USA.; USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, California, USA., Schmidt MJ; 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., 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.; Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.; The Saban Research Institute, Children's Hospital Los Angeles, Los Angeles, California, USA.; Department of Biomedical Engineering, Viterbi School of Engineering, University of Southern California, Los Angeles, California, USA.; Department of Aerospace and Mechanical Engineering, Viterbi School of Engineering, 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.; Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, California, USA., Berry JL; The Vision Center, Children's Hospital Los Angeles, Los Angeles, California, USA.; USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.; Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.; The Saban Research Institute, Children's Hospital Los Angeles, Los Angeles, California, USA., Xu L; The Vision Center, Children's Hospital Los Angeles, Los Angeles, California, USA.; USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.; 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. |
| المصدر: | Ophthalmic genetics [Ophthalmic Genet] 2024 Jul 17, pp. 1-4. Date of Electronic Publication: 2024 Jul 17. |
| Publication Model: | Ahead of Print |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: London : Informa Healthcare Original Publication: Buren, The Netherlands : Aeolus Press, c1994- |
| مستخلص: | 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. |
| فهرسة مساهمة: | Keywords: Retinoblastoma; aqueous humor; cell-free DNA; circulating tumor DNA; liquid biopsy; precision oncology; somatic copy number alteration; vitreous humor |
| تواريخ الأحداث: | Date Created: 20240717 Latest Revision: 20240717 |
| رمز التحديث: | 20240717 |
| DOI: | 10.1080/13816810.2024.2374886 |
| PMID: | 39016001 |
| قاعدة البيانات: | MEDLINE |
PDF full text from Publisher | تدمد: | 1744-5094 |
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| DOI: | 10.1080/13816810.2024.2374886 |