Mayo Clinic study finds cerebrospinal fluid DNA can aid brain tumor diagnosis

A Mayo Clinic study published in the Journal of Neuro-Oncology indicates that analyzing DNA in cerebrospinal fluid (CSF) may assist in diagnosing brain tumors when MRI results are inconclusive or when traditional tissue biopsies are unsafe or difficult to perform.

The study involved 76 patients presenting with complex clinical scenarios, such as undiagnosed abnormalities in the brain or spinal cord, imaging changes that could signify either tumor growth or treatment effects, or suspected leptomeningeal disease. Researchers successfully detected tumor-associated DNA in 26% of the participants (20 patients).

While liquid biopsies typically utilize blood, the blood-brain barrier often prevents sufficient tumor DNA from reaching the bloodstream. By testing the CSF that surrounds the brain and spinal cord, clinicians may obtain critical diagnostic evidence to supplement imaging and pathology.