Somatic mutational landscape of extracranial arteriovenous malformations and phenotypic correlations.

F N El SissyM WassefB FauconD SalvanS NadaudF CouletH Adle-BiassetteF SoubrierA BisdorffMelanie Eyries

Published in: Journal of the European Academy of Dermatology and Venereology : JEADV (2022)

Our study highlights a high prevalence of pathogenic somatic variants, predominantly in MAP2K1 and KRAS, in extracranial arteriovenous malformations. In addition, our study identifies for the first time a correlation between the genotype, clinical severity and angiographic characteristics of extracranial arteriovenous malformations. The RAS/MAPK variants identified in this study are known to be associated with malignant tumours for which targeted therapies have already been developed. Thus, identification of these somatic variants could lead to new therapeutic options to improve the management of patients with extracranial arteriovenous malformations.

Keyphrases

copy number
internal carotid artery
signaling pathway
gene expression
genome wide
middle cerebral artery
wild type