Monitoring Arteriovenous Malformation Response to Genotype-Targeted Therapy.

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.
Competing Interests: POTENTIAL CONFLICT OF INTEREST: Dr Shimano is the study chair for a consortium investigator-initiated trial funded by Novartis; the trial is unrelated to the diagnosis or therapy described in this case report. The other authors have indicated they have no potential conflicts of interest to disclose.
(Copyright © 2020 by the American Academy of Pediatrics.)