Potential of Aqueous Humor as a Surrogate Tumor Biopsy for Retinoblastoma.
Berry JL, Xu L, Murphree AL, Krishnan S, Stachelek K, Zolfaghari E, McGovern K, Lee TC, Carlsson A, Kuhn P, Kim JW, Cobrinik D, Hicks J. Potential of Aqueous Humor as a Surrogate Tumor Biopsy for Retinoblastoma. JAMA Ophthalmology 2017, 135: 1221-1230. PMID: 29049475, PMCID: PMC5710399, DOI: 10.1001/jamaophthalmol.2017.4097.Peer-Reviewed Original ResearchConceptsTumor-derived DNACell-free DNARB eyesIntravitreous injectionAqueous humorAH samplesCopy number variationsSalvage therapyRB1 mutationsTumor biopsiesNumber variationsTertiary care hospitalCase series studyDNA copy number variationsDNA copy number alterationsCopy number variation profilesHigh-sensitivity kitChromosomal copy number variationsTumor DNA fractionPolymerase chain reaction primersWhole-genome sequencingPrimary enucleationCare hospitalDisease courseNumber variation profiles