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.
Original language | English (US) |
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Article number | e20193206 |
Journal | Pediatrics |
Volume | 146 |
Issue number | 3 |
DOIs | |
State | Published - Sep 2020 |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health