Loss of photoreceptorness and gain of genomic alterations in retinoblastoma reveal tumor progression.

ABSTRACT:

Background

Retinoblastoma is a pediatric eye cancer associated with RB1 loss or MYCN amplification (RB1 (+/+) MYCN(A) ). There are controversies concerning the existence of molecular subtypes within RB1(-/-) retinoblastoma. To test whether these molecular subtypes exist, we performed molecular profiling.

Methods

Genome-wide mRNA expression profiling was performed on 76 primary human retinoblastomas. Expression profiling was complemented by genome-wide DNA profiling and clinical, histopathological, and ex vivo drug sensitivity data.

Findings

RNA and DNA profiling identified major variability between retinoblastomas. While gene expression differences between RB1 (+/+) MYCN(A) and RB1(-/-) tumors seemed more dichotomous, differences within the RB1(-/-) tumors were gradua

SUBMITTER: Kooi IE 

PROVIDER: S-EPMC4534696 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature