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Characterizing DNA methylation signatures of retinoblastoma using the aqueous humor liquid biopsy: moving beyond genomics

ABSTRACT: Identify DNA methylation change in retinoblastoma using aqueous humor cfDNA

ORGANISM(S): Homo sapiens

PROVIDER: GSE208053 | GEO | 2022/08/18

REPOSITORIES: GEO

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Retinoblastoma Aqueous Humor Liquid Biopsy Repository

Project description:Retinoblastoma Aqueous Humor Liquid Biopsy Repository

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Retinoblastoma Aqueous Humor Liquid Biopsy Repository

Project description:Retinoblastoma Aqueous Humor Liquid Biopsy Repository

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Characterizing DNA methylation signatures of retinoblastoma using the aqueous humor liquid biopsy

Project description:Characterizing DNA methylation signatures of retinoblastoma using the aqueous humor liquid biopsy

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Characterizing DNA methylation signatures of retinoblastoma using the aqueous humor liquid biopsy: moving beyond genomics

Project description:Characterizing DNA methylation signatures of retinoblastoma using the aqueous humor liquid biopsy: moving beyond genomics

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Characterizing DNA methylation signatures of retinoblastoma using aqueous humor liquid biopsy.

Project description:Retinoblastoma (RB) is a cancer that forms in the developing retina of babies and toddlers. The goal of therapy is to cure the tumor, save the eye and maximize vision. However, it is difficult to predict which eyes are likely to respond to therapy. Predictive molecular biomarkers are needed to guide prognosis and optimize treatment decisions. Direct tumor biopsy is not an option for this cancer; however, the aqueous humor (AH) is an alternate source of tumor-derived cell-free DNA (cfDNA). Here we show that DNA methylation profiling of the AH is a valid method to identify the methylation status of RB tumors. We identify 294 genes directly regulated by methylation that are implicated in p53 tumor suppressor (RB1, p53, p21, and p16) and oncogenic (E2F) pathways. Finally, we use AH to characterize molecular subtypes that can potentially be used to predict the likelihood of treatment success for retinoblastoma patients.

| S-EPMC9492718 | biostudies-literature

Characterizing DNA methylation signatures of retinoblastoma using the aqueous humor liquid biopsy

Project description:This SuperSeries is composed of the SubSeries listed below.

2022-08-17 | GSE208055 | GEO

microRNA profiling in the aqueous humor of highly myopic eyes by next generation sequencing

Project description:Purpose: To characterize microRNAs (miRNAs) and their possible roles in high myopia by using next generation sequencing Methods: Aqueous humor samples were obtained from 15 highly myopic eyes and 15 cataract eyes at the onset of surgery. miRNA next generation sequencing and bioinformatics analyses were performed using RNA extracted from aqueous humor samples. Results: A total of 341 miRNAs were detected in the aqueous humor samples of highly myopic eyes; 201 miRNAs were detected in the aqueous humor samples of cataractous control eyes. A total of 249 mature miRNAs and 17 novel miRNAs were differentially expressed during myopia. Possible pathways regulated by these aberrantly expressed miRNAs included the TNF, MAPK, PI3K-Akt, and HIF-1 signaling pathways. Conclusions: The current study provided an overall view of miRNA profiling in the aqueous humor of highly myopic eyes. These profiles may be associated with myopia pathogenesis, and are potential biomarkers.

2021-12-15 | GSE142359 | GEO

Effect of prostaglandin analogs on aqueous humor outflow

Project description:The purpose of this study is to discover genes that might increase aqueous humor outflow when human ciliary muscle or human trabecular meshwork cells are treated with the prostaglandin analogues latanoprost free acid or prostaglandin F2alpha. Five tissue donors were pooled on each chip. Keywords: other

2003-07-16 | GSE492 | GEO

The Constitutive Proteome of Human Aqueous Humor

Project description:Aqueous humor (AH) is the fluid in the anterior and posterior chambers of the eye that contains proteins regulating ocular homeostasis. Analysis of aqueous humor proteome is challenging mainly due to low sample volume and protein concentration. In this study, by utilizing state of the art technology, we performed Liquid-Chromatography Mass spectrometry (LC-MS/MS) analysis of 88 aqueous humor samples from subjects undergoing cataract surgery.

2021-09-09 | PXD022463 | Pride

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

Project description: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 (p = 0.015); later age of diagnosis (p < 0.0001); greater odds of an endophytic tumor growth pattern (without retinal detachment; p = 0.047); tumor heights >10 mm (p = 0.09); and containing 6p gain, a biomarker of poor ocular prognosis (p = 0.004). The AH liquid biopsy platform is a high-yield method of whole-genome RB SCNA analysis, and SCNAs are associated with numerous clinical findings in RB eyes. Prospective analyses are encouraged to further elucidate the clinical relevance of specific SCNAs in RB.

| S-EPMC8268955 | biostudies-literature

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