Abstract
Whole genome sequencing was performed on 20 matched blood and aqueous samples; tumor-associated chromosomal changes were found in 0/20 blood vs. 11/20 aqueous samples along with shorter DNA fragments. Thus, aqueous is superior to blood as a liquid biopsy for retinoblastoma.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Aqueous Humor / metabolism*
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Cell-Free Nucleic Acids
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Child, Preschool
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DNA, Neoplasm / genetics
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Humans
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Infant
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Liquid Biopsy
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Retinal Neoplasms / blood*
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Retinal Neoplasms / diagnosis
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Retinoblastoma / blood*
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Retinoblastoma / diagnosis
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Retinoblastoma Binding Proteins / metabolism*
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Ubiquitin-Protein Ligases / metabolism*
Substances
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Cell-Free Nucleic Acids
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DNA, Neoplasm
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RB1 protein, human
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Retinoblastoma Binding Proteins
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Ubiquitin-Protein Ligases