Monitoring Arteriovenous Malformation Response to Genotype-Targeted Therapy.

Edwards, Emily A; Phelps, Andrew S; Cooke, Daniel; Frieden, Ilona J; Zapala, Matthew A; Fullerton, Heather J; Shimano, Kristin A · Pediatrics · 2020

case_report · Level V

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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.

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