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DNA methylation analysis of the cell free DNA from Retinoblastoma

ABSTRACT: Retinoblastoma (RB) is a primary intraocular cancer in infants and toddlers. Direct biopsy is contraindicated in RB due to the risks of provoking extraocular tumor spread. In this study, we demonstrated that DNA methylation profile can be obtained from the tumor-derived cell-free DNA in aqueous humor (AH) and is highly concordance with that directly from RB primary tumors. It is the first time to identify unique DNA methylation pattern from RB tumor before surgically removing the eye. We provde the evidence that DNA methylation from AH could not only be used for RB diagnosis, but also for the prognostic prediction and potential therapeutic targets by personalized approach.

ORGANISM(S): Homo sapiens

PROVIDER: GSE196363 | GEO | 2022/08/18

REPOSITORIES: GEO

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Characterizing Local Extension of Retinoblastoma by Single-cell Transcriptomics

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