Whole transcriptome sequencing identifies BCOR internal tandem duplication as a common feature of clear cell sarcoma of the kidney.

ABSTRACT:

Purpose

Clear cell sarcoma of the kidney (CCSK) is a rare pediatric renal tumor that is frequently difficult to distinguish among other childhood renal tumors due to its histological heterogeneity. This work evaluates genetic abnormalities carried by a series of CCSK samples by whole transcriptome sequencing (WTS), to identify molecular biomarkers that could improve the diagnostic process.

Methods

WTS was performed on tumor RNA from 8 patients with CCSK. Bioinformatic analysis, with implementation of a pipeline for detection of intragenic rearrangements, was executed. Sanger sequencing and gene expression were evaluated to validate BCOR internal tandem duplication (ITD).

Results

WTS did not identify any shared SNVs, Ins/Del or fusion event. Conversely, analysis of int

SUBMITTER: Astolfi A 

PROVIDER: S-EPMC4747379 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature