Dr. Diamond on the Ability to Test Urine for BRAF Mutations

Eli L. Diamond, MD, neurologist, Memorial Sloan Kettering Cancer Center, discusses the results of an analysis that examined the detection of BRAF mutations in urine and plasma cell-free DNA in patients with Langerhans Cell Histiocytosis(LCH) and Erdheim-Chester Disease (ECD) who have a BRAFV600E mutation.

Diamond says tissue samples that was known and confirmed to have a BRAF mutation was compared to urine samples in more than 20 patients with these diseases. In the untreated patients, the urine test was positive in all of the patients for whom the tissue test was positive.

For some patients, Diamond says the urine test was the first identification of BRAF mutation status. In these patients, a biopsy confirmed their mutational status.