A research team from the University of California reported that somatic activating KRAS mutations are more prevalent in brain arteriovenous malformations (bAVMs) diagnosed in childhood than adulthood in a presentation given by Dr Ethan Winkler at ISC 2023.
Sporadic bAVMs, which disproportionately affect young people, are a cause of strokes that are potentially treatable. Non-inherited somatic activating mutations in KRAS have been reported in approximately half of bAVM specimens obtained mainly from adults. This study investigated the hypothesis that KRAS mutations would be associated with an earlier age at diagnosis, larger bAVM size, or earlier time to hemorrhage.