Abstract 1367: Comprehensive characterization of cell-free tumor DNA in plasma and urine of patients with renal tumors

Abstract

Renal cell carcinoma (RCC) represents a heterogenous disease in terms of histologic subtypes, prognosis and treatment response. Genetic heterogeneity offers a particular challenge to direct available targeted therapies that best match the patient. Profiling and monitoring of tumor-specific alterations from body fluids has been demonstrated as a valuable tool for many tumor types. Yet, the utility of circulating tumor DNA (ctDNA) in RCC has not been well established. To characterize the levels and composition of ctDNA in the plasma and urine we employed a broad range of targeted and untargeted methods to two independent cohorts of patients with renal tumors. We applied shallow Whole Genome Sequencing (sWGS) and modified Fast Aneuploidy Screen Test-Sequencing System (mFAST-SeqS) to 43 patients with metastatic RCCs. Using the mFAST-SeqS, ctDNA was detectable in only 2 out of 43 patients (4.7%). However, assessment of tumor fractions based on sWGS using the ichorCNA algorithm revealed 6 further patients with detectable amounts of ctDNA. In silico size selection of fragments Citation Format: Tina Moser, Christopher G. Smith, Maximilian Seles, Gabriel Wcislo, Matthew Eldridge, Samantha Perakis, Florent Mouliere, Isaac Lazzeri, Katrin Heider, Anne Warren, Nitzan Rosenfeld, Grant D. Stewart, Ellen Heitzer. Comprehensive characterization of cell-free tumor DNA in plasma and urine of patients with renal tumors [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2019; 2019 Mar 29-Apr 3; Atlanta, GA. Philadelphia (PA): AACR; Cancer Res 2019;79(13 Suppl):Abstract nr 1367.