Circulating tumor DNA profiling for detection, risk stratification, and classification of brain lymphomas

Clinical outcomes of patients with CNS lymphomas (CNSLs) are highly heterogeneous, yet identification of patients at high risk of treatment failure is challenging. Furthermore, CNSL diagnosis often remains unconfirmed because of contraindications for invasive biopsies. Improved biomarkers are needed to better stratify patients into risk groups, predict treatment response, and noninvasively identify CNSL. A study at the University of Freiburg (Germany) found that ctDNA levels at diagnosis and during treatment were strongly predictive of clinical outcomes in CNSL. Furthermore ctDNA profiling from cerebrospinal fluid and plasma allowed robust biopsy-free identification of CNSL in a subset of cases.