Harnessing liquid biopsy to unveil RAS-MEK pathway somatic pathogenic variants in extracranial arterio-venous malformations.

ABSTRACT:

Background

Arterio-venous malformations (AVMs) have been associated with somatic genetic variants in the RAS-MEK pathway, generating interest in the role of MEK inhibitors. However, open biopsy for molecular characterisation carries a potentially life-threatening bleeding risk.

Methods

We utilized liquid biopsy from the AVM efferent draining vein in 10 children and young adults (female 7, age range 7.3-22.2 years) with extracranial AVMs to identify the underlying somatic variants.

Results

Here we show identification of somatic mosaic variants in 8 of 10 patients. There were no procedural complications. Two patients with spinal arteriovenous metameric syndrome (Cobb syndrome) demonstrated somatic activating KRAS variants. Two additional patients had somatic in-frame de

SUBMITTER: Bhatia KD 

PROVIDER: S-EPMC12680647 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature