Abstract IA05: Circulating tumor DNA as a tool for prognostication, translational discovery, and early cancer detection

Abstract

Abstract New sequencing technologies have facilitated the detection and profiling of circulating tumor DNA (ctDNA) in the blood of patients with cancer. Recent efforts have demonstrated that ctDNA can be detected in the blood of pediatric patients with solid malignancies, using assays specifically designed for the unique somatic profiles observed in these cancers. Once identified in a blood sample, ctDNA levels appear to correlate with outcome and can be tracked over time to measure response to therapy and detect recurrence. Deep profiling of ctDNA can identify subclonal somatic variants that are not detectable in single-tumor biopsy samples, enabling a broader understanding of tumor heterogeneity and the ability to discover novel patterns of tumor evolution and treatment resistance. Validation of the prognostic and translational value of these assays requires leveraging large prospective studies, and this work is ongoing. One obvious application of this new technology is the potential to detect the presence of cancer in pediatric patients with increased cancer risks, including cancer predisposition syndromes. Collaborative multi-institutional efforts are under way to collect samples and develop new ctDNA assays for early cancer detection. Citation Format: Brian Crompton. Circulating tumor DNA as a tool for prognostication, translational discovery, and early cancer detection [abstract]. In: Proceedings of the AACR Special Conference on the Advances in Pediatric Cancer Research; 2019 Sep 17-20; Montreal, QC, Canada. Philadelphia (PA): AACR; Cancer Res 2020;80(14 Suppl):Abstract nr IA05.