Harnessing liquid biopsy to unveil RAS-MEK pathway somatic pathogenic variants in extracranial arterio-venous malformations
Our study further supports the role of the RAS-MEK pathway in AVM pathophysiology. In addition, we demonstrate the effective use of liquid biopsy to genotype extracranial AVMs in children. Finally, we provide insights into how the localized high-pressure high-flow conditions within the AVM distinctly shape cell free DNA fragmentation patterns.
Authors
- Dianne Sylvester (ORCID: https://orcid.org/0000-0002-9918-9266)
- Geoffrey McCowage (ORCID: https://orcid.org/0000-0003-3471-8443)
- Smadar Kahana‐Edwin (ORCID: https://orcid.org/0000-0002-2869-4310)
- Caroline M. Bateman (ORCID: https://orcid.org/0000-0003-2759-8279)
- Kartik Bhatia (ORCID: https://orcid.org/0000-0002-3431-5647)
- Luciano Dalla‐Pozza (ORCID: https://orcid.org/0000-0001-6826-764X)
- Sarah Josephi‐Taylor
- Russell C. Dale (ORCID: https://orcid.org/0000-0002-2495-1826)
- Bhavna Padhye (ORCID: https://orcid.org/0000-0003-0740-3606)
- Brendan Steinfort
- Mark Dexter
- Timothy Harrington
- David Lord (ORCID: https://orcid.org/0000-0002-6468-4208)
Institutions
- The University of Sydney (AU)
- Children's Hospital at Westmead (AU)
- Westmead Hospital (AU)
Publication Details
- Journal
- Communications Medicine
- Published
- 2025-12-05
- DOI
- https://doi.org/10.1038/s43856-025-01174-1
- Primary Topic
- Vascular Malformations Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- David and Elaine Potter Foundation
- Australian Government
- Cancer Institute NSW
- Medical Research Council
- National Health and Medical Research Council