Monitoring Arteriovenous Malformation Response to Genotype-Targeted Therapy.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 32859736.
- Also identified by DOI 10.1542/peds.2019-3206.
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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.
Medical subject headings
- Arteriovenous Malformations
- Genotype
- Protein Kinase Inhibitors
- Proto-Oncogene Proteins p21(ras)
- Pyridones
- Pyrimidinones
- Spinal Cord Diseases