Monitoring arteriovenous malformation response to genotype-targeted therapy

EA Edwards, AS Phelps, D Cooke, IJ Frieden… - …, 2020 - publications.aap.org
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 …