“Liquid Biopsy” Evaluated to Identify Gene Mutation Responsible for Vein of Galen AVMs

August 8, 2023—Investigators in Australia evaluated a “liquid biopsy”—taking blood samples from veins near or within the arteriovenous malformations (AVMs)—to identify gene mutations and proceed with treatment plans for pediatric patients. They were particularly interested in the local mutations in vein of Galen malformations, which have not been previously identified because the risk of a surgical biopsy was too high. The findings indicated that it may be possible to use this less-invasive technique to identify the gene mutations responsible for these AVMs.

The investigators’ study, “Liquid Biopsy Identifies Somatic KRAS Mutations in Paediatric Cranio-Spinal Arterio-Venous Malformations: Preliminary Results,” was presented at SNIS 2023, the Society of NeuroInterventional Surgery’s 20th annual meeting held July 31 to August 4 in San Diego, California.

As summarized in the SNIS press release, the investigators were cleared to take liquid biopsies from 11 patients with documented brain or spine AVMs. To date, seven patients received genetic testing. Three of those patients were found to have gene mutations related to AVM. Two patients have commenced treatment with gene-directed targeted medications, with improved health or reduced symptoms since their treatment, reported the investigators.

“These early results are promising and show that liquid biopsy is a potential option for identifying gene targets for pharmacotherapy in these complex AVM cases in children that cannot be safely biopsied by open surgery,” commented Kartik Bhatia, MBBS, a pediatric interventional neuroradiologist at Sydney Children’s Hospitals Network in Sydney, Australia. “Being able to more easily and safely identify these gene mutations means that more children with these disorders may be able to get access to treatment that improves their quality of life.”