Angiographic Evidence of Response to Trametinib Therapy for a Spinal Cord Arteriovenous Malformation
Daniel L. Cooke, Ilona J. Frieden, Kristin A. Shimano
Abstract
Several studies have implicated RAS and the RAS-related gene family (eg, BRAF, KRAS, and MAPK) in sporadic arteriovenous malformations (AVMs) with evidence that targeted biologic agents (eg, trametinib) may be beneficial for certain patients. Despite similar genetic mutations in brain and spine AVMs, however, no evidence of molecular intervention has proven effective in impacting such cases. We describe a single patient undergoing MEK-inhibitor therapy for a KRAS-positive thoracic wall AVM with an additional spinal intramedullary AVM. Angiography demonstrated significant reduction in the flow to and size of the patient’s intramedullary AVM. Based on this result, formal trials for inoperable and/or therapeutically challenging central nervous system AVMs might be considered.