Monitoring arteriovenous malformation response to genotype-targeted therapy

Emily A. Edwards, Andrew S. Phelps, Daniel Cooke, Ilona J. Frieden, Matthew A. Zapala, Heather J. Fullerton, Kristin A. Shimano

Research output: Contribution to journalArticlepeer-review

48 Scopus citations


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.

Original languageEnglish (US)
Article numbere20193206
Issue number3
StatePublished - Sep 2020

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


Dive into the research topics of 'Monitoring arteriovenous malformation response to genotype-targeted therapy'. Together they form a unique fingerprint.

Cite this