Monitoring Arteriovenous Malformation Response to Genotype-Targeted Therapy
Emily A. Edwards, Andrew Phelps, Daniel L. Cooke, Ilona J. Frieden, Matthew A. Zapala, Heather J. Fullerton, Kristin A. Shimano
Abstract
Arteriovenous malformations (AVMs) have recently been reported to have a high incidence of somatic KRAS mutations suggesting potential for treatment with mitogen-activated protein kinase inhibitors. In this case report, we describe genotype-targeted treatment of a KRAS mutant metameric AVM in a patient with Cobb syndrome using the mitogen-activated protein kinase inhibitor trametinib. Therapeutic response was monitored with phase-contrast magnetic resonance angiography to quantify AVM arterial inflow as an imaging biomarker. Treatment with trametinib resulted in a substantial decrease in blood flow to the AVM, with a >75% reduction in arterial inflow after 6 months of trametinib therapy.