Potential of Aqueous Humor as a Surrogate Tumor Biopsy for Retinoblastoma.

ABSTRACT:

Importance

Retinoblastoma (Rb) is one of the first tumors to have a known genetic etiology. However, because biopsy of this tumor is contraindicated, it has not been possible to define the effects of secondary genetic changes on the disease course.

Objective

To investigate whether the aqueous humor (AH) of Rb eyes has sufficient tumor-derived DNA to perform genetic analysis of the tumor, including DNA copy number alterations.

Design, setting, and participants

This investigation was a case series study at a tertiary care hospital (Children's Hospital Los Angeles) with a large Rb treatment center. Cell-free DNA (cfDNA) was isolated from 6 AH samples from 3 children with Rb, including 2 after primary enucleation and 1 undergoing multiple intravitreous injections of melph

SUBMITTER: Berry JL 

PROVIDER: S-EPMC5710399 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature