Wilms Tumor study with Targeted-Capture, WGS data on dbGaP (50 participants)

phs002847 — Circulating Tumor DNA as a Biomarker in Patients with Stage III and IV    Wilms Tumor: Analysis from a Children's Oncology Group Trial, AREN0533

<p>We evaluated the utility of circulating tumor DNA (ctDNA) as a biomarker in the serum and urine of 50 patients with Stage III or Stage IV Wilms tumor (WT) that were enrolled on <a href="https://childrensoncologygroup.org/">Children's Oncology Group (COG)</a> trial AREN0533. 49 out of 50 patients had matched tumor samples available for comparison. We profiled samples with ultra-low pass whole genome sequencing (ULP-WGS) and detected ctDNA in 82% of serum samples and 26% of urine samples. We also identified copy-number changes and single-nucleotide variants in the serum and urine samples, and compared them to the tumor data. Our study highlights the advantages of using ctDNA as non-invasive prognostic biomarker with the potential to detect tumor heterogeneity in patients with WT. We believe that prospective validation of ctDNA as a prognostic biomarker in patients with WT is warranted. The ULP-WGS and targeted next-generation sequencing (OncoPanel) data are available in this study.<br></p>