Detection of leptomeningeal disease using cell-free DNA from cerebrospinal fluid

Leptomeningeal disease (LMD) is a complication of cancer that is frequently underdiagnosed owing to the low sensitivity of cerebrospinal fluid (CSF) cytologic assessment, the current benchmark diagnostic method. A study at two tertiary medical centers in the US evaluated CSF cell-free DNA for the diagnosis of LMD. The study found improved sensitivity and accuracy of cfDNA CSF testing vs cytologic assessment for diagnosing LMD with the exception of parenchymal tumors abutting CSF, suggesting improved ability to diagnose LMD. Consideration of incorporating CSF cfDNA analysis into clinical care is warranted.