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Kim ME, Polski A, Xu L, et al. Comprehensive Somatic Copy Number Analysis Using Aqueous Humor Liquid Biopsy for Retinoblastoma. Cancers (Basel). 2021;13(13)doi: 10.3390/cancers13133340.
Kim, M. E., Polski, A., Xu, L., Prabakar, R. K., Peng, C. C., Reid, M. W., Shah, R., Kuhn, P., Cobrinik, D., Hicks, J., & Berry, J. L. (2021). Comprehensive Somatic Copy Number Analysis Using Aqueous Humor Liquid Biopsy for Retinoblastoma. Cancers, 13(13), . https://doi.org/10.3390/cancers13133340
Kim, Mary E, et al. "Comprehensive Somatic Copy Number Analysis Using Aqueous Humor Liquid Biopsy for Retinoblastoma." Cancers vol. 13,13 (2021). doi: https://doi.org/10.3390/cancers13133340
Kim ME, Polski A, Xu L, Prabakar RK, Peng CC, Reid MW, Shah R, Kuhn P, Cobrinik D, Hicks J, Berry JL. Comprehensive Somatic Copy Number Analysis Using Aqueous Humor Liquid Biopsy for Retinoblastoma. Cancers (Basel). 2021 Jul 03;13(13). doi: 10.3390/cancers13133340. PMID: 34283049; PMCID: PMC8268955.
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Cancers (Basel). 2021 Jul 03;13(13). doi: 10.3390/cancers13133340.

Comprehensive Somatic Copy Number Analysis Using Aqueous Humor Liquid Biopsy for Retinoblastoma.

Cancers

Mary E Kim, Ashley Polski, Liya Xu, Rishvanth K Prabakar, Chen-Ching Peng, Mark W Reid, Rachana Shah, Peter Kuhn, David Cobrinik, James Hicks, Jesse L Berry

Affiliations

  1. The Vision Center at Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
  2. USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA 90033, USA.
  3. Department of Biological Sciences, Dornsife College of Letters, Arts, and Sciences, University of Southern California, Los Angeles, CA 90007, USA.
  4. Department of Molecular and Computational Biology, University of Southern California, Los Angeles, CA 90007, USA.
  5. Cancer and Blood Disease Institute at Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
  6. Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
  7. Department of Aerospace and Mechanical Engineering, Viterbi School of Engineering, University of Southern California, Los Angeles, CA 90007, USA.
  8. Department of Biomedical Engineering, Viterbi School of Engineering, University of Southern California, Los Angeles, CA 90007, USA.
  9. Department of Biochemistry and Molecular Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
  10. The Saban Research Institute, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.

PMID: 34283049 PMCID: PMC8268955 DOI: 10.3390/cancers13133340

Abstract

Aqueous humor (AH) liquid biopsy has been established as a surrogate tumor biopsy for retinoblastoma (RB). Previous AH studies have focused on highly recurrent RB somatic copy number alterations (SCNAs) including gain of 1q, 2p, 6p, and loss of 13q and 16q. In this retrospective study, we provide a comprehensive, whole-genome analysis of RB SCNAs and evaluate associated clinical features for 68 eyes of 64 RB patients from whom AH was obtained between December 2014 and October 2020. Shallow whole-genome sequencing of AH cell-free DNA was performed to assess for SCNAs. The prevalence of specific non-highly recurrent SCNAs, such as 20q gain and 8p loss, differed between primarily and secondarily enucleated eyes. Increases in chromosomal instability predict more advanced seeding morphology (

Keywords: SCNA; aqueous humor; cell-free DNA; circulating tumor DNA; liquid biopsy; precision oncology; prognostic biomarker; retinoblastoma

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