Genetics helps untangle the causes behind a rare and complex vascular disorder

Katsutoshi HIROSE, Satoru TOYOSAWA
Department of Oral and Maxillofacial Pathology

The research group have investigated key genetic mutations linked to extracranial arteriovenous malformations (AVMs), a rare and potentially serious vascular disorder. They have revealed that these mutations activate the RAS/RAF/MEK signaling pathway and that the MAP4K4 gene may drive pathological angiogenesis. This may mean that existing cancer drugs that target the same pathway could be effective for AVM treatment, potentially paving the way for novel therapies.

The article, “Pathogenic Mechanism of Extracranial Arteriovenous Malformations: Insights from Clinical, Pathological, and Genetic Analyses”, was published in Virchows Archiv: European Journal of Pathology at DOI: https://doi.org/10.1007/s00428-025-04158-7