BRAF V600E Mutation

The goal of this prospective, low-interventional study is to develop and optimize a highly sensitive and specific method for the detection of the BRAF V600E mutation in liquid biopsy samples from patients with unresectable metastatic melanoma after disease relapse. The method will be based on a CRISPR/Cas12a system combined with isothermal amplification and endpoint electrochemical detection using electrode chips and low-cost instrumentation.

The investigators will evaluate the sensitivity of ctDNA from plasma and CSF at baseline (defined as C1D1) and over time in response to treatment with plixorafenib alone or in combination with retifanlimab in patients with BRAF-V600E mutant glioma refractory to prior therapies.