A Japanese case of melanoma of unknown origin with a rare BRAF^V600R mutation was successfully treated with BRAF/MEK inhibitors

Abstract

Combination therapy with BRAF and MEK inhibitors (BRAF/MEKi) has shown significantly prolonged progression-free survival (PFS) and overall survival (OS) for BRAF mutated melanoma. Over 90% of the activating mutations are BRAF^V600E or BRAF^V600K changes. There are no reports of BRAF^V600R in Japanese patients with melanoma. The third most common BRAF mutation is BRAF^V600R. In this case, we detected the BRAF^V600R mutation with FoundationOne CDx in a Japanese patient with melanoma.. The patient was treated with BRAF/MEKi and maintained stable disease status for 1 year.