Complex arteriovenous malformations (AVMs) are rare blood vessel conditions that can cause severe pain, progressive disability and life-threatening complications in children and young people.
Although therapies can be highly effective, diagnosis has traditionally been done through a tissue biopsy, which can be unsafe because of the risk of serious bleeding during the procedure. To address this challenge, the team at Sydney Children's Hospitals Network created a translational clinical research pathway linking interventional radiology, laboratory genomics, oncology, and clinical genetics to safely identify actionable treatment targets. During standard angiography or embolisation procedures, blood containing AVM-derived cell-free DNA is collected, allowing a molecular diagnosis without the need for high-risk biopsy.
Using this innovative liquid biopsy approach, the team analysed samples from 10 children and young adults with AVMs and identified disease-driving somatic variants in eight. No procedure-related complications occurred. Five patients started molecular-guided therapy and showed significant reductions in disability.
This research demonstrates a safe, scalable approach to diagnosing and treating rare vascular conditions while reducing exposure to ineffective therapies and lowering costs for families and the health system.
