Schmidt et al. showed, that pathogen variants (PV) and variants unknown significance (VUS) could be detected in the majority of cases (86.0%) of arteriovenous malformations (AVM) included in this study, predominantely within the RAS/MAPK pathway. Somatic RAS PVs correlated with advanced disease stages and higher relapse rates compared to MAP2K1 and BRAF PVs, while germline variants were more often associated with syndromic patterns. Rare somatic variants in genes such as SOS1, RAF1, and RIT1 were also identified, highlighting the expanding spectrum of contributors to AVM pathogenesis and allowing targeted medical therapy.

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