Abstract Glioma-derived cell-free tumor DNA is challenging to detect using standard liquid biopsy techniques as its levels in body fluids are very low, similar to those in patients with early stage carcinomas. By sequencing cell-free DNA across thousands of clonal and private mutations identified individually in each patient’s tumor we detected tumor-derived DNA in plasma (10/12, 83%) and urine samples (8/11, 72%) from the majority (7/8, 87.5%) of glioma patients tested. One Sentence Summary Circulating tumor DNA can be detected in the majority of plasma and urine samples from primary brain tumor patients using sequencing guided by mutations detected in multi-region tumor biopsies.

Integrated clonal analysis reveals circulating tumor DNA in urine and plasma of glioma patients