ArticleJournal of the European Academy of Dermatology and Venereology : JEADV2022
Somatic mutational landscape of extracranial arteriovenous malformations and phenotypic correlations.
Article in Journal of the European Academy of Dermatology and Venereology : JEADV, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 25 citations in OpenAlex.
- From Somatic Driver to Molecular Therapy in Retinal, Choroidal and Periocular Vascular Disease: Mosaicism, Targetable Pathways and Ocular Toxicity.International journal of molecular sciences · 2026Review
- Pathogenic mechanism of extracranial arteriovenous malformations: insights from clinical, pathological, and genetic analyses.Virchows Archiv : an international journal of pathology · 2026Article
- Detection rate and mutational landscape in extracranial arteriovenous malformations: a cohort study.BMC medicine · 2026Article
- KRAS-dependent glycolytic reprogramming of endothelial cells in sporadic arteriovenous malformations.EMBO molecular medicine · 2026Article
- Ultra-deep targeted next-generation sequencing with peripheral blood in patients with vascular malformations: a cohort of 40 patients.Molecular biology reports · 2025Article
- Updated Classification of Vascular Anomalies. A living document from the International Society for the Study of Vascular Anomalies Classification Group.Journal of vascular anomalies · 2025Article
- Identification of Somatic Genetic Variants in Superficial Vascular Malformations by Liquid Biopsy in a Cohort of 88 Patients from a French Hospital.Molecular diagnosis & therapy · 2025Article
- RAS Pathway Mutations and Therapeutics in Vascular Anomalies.Pediatric blood & cancer · 2025Review
- Extracranial arteriovenous malformations: towards etiology-based therapeutic management.The Journal of clinical investigation · 2025Review
- Somatic RIT1 delins in arteriovenous malformations hyperactivate RAS-MAPK signaling amenable to MEK inhibition.Angiogenesis · 2024Article
- Extracranial Vascular Anomalies Driven by RAS/MAPK Variants: Spectrum and Genotype-Phenotype Correlations.Journal of the American Heart Association · 2024Article
- Article
- Extracranial arteriovenous malformations demonstrate dysregulated TGF-β/BMP signaling and increased circulating TGF-β1.Scientific reports · 2022Article
- Genetic understanding of vascular anomalies: better classification and risk-stratification with targeted therapeutic options - a new horizon for vascular anomaly patients.Journal of the European Academy of Dermatology and Venereology : JEADV · 2022Article
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10 authors at 4 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundSomatic genetic variants may be the cause of extracranial arteriovenous malformations, but few studies have explored these genetic anomalies, and no genotype-phenotype correlations have been identified.
objectivesThe aim of the study was to characterize the somatic genetic landscape of extracranial arteriovenous malformations and correlate these findings with the phenotypic characteristics of these lesions.
methodsThis study included twenty-three patients with extracranial arteriovenous malformations that were confirmed clinically and treated by surgical resection, and for whom frozen tissue samples were available. Targeted next-generation sequencing analysis of tissues was performed using a gene panel that included vascular disease-related genes and tumour-related genes.
resultsWe identified a pathogenic variant in 18 out of 23 samples (78.3%). Pathogenic variants were mainly located in MAP2K1 (n = 7) and KRAS (n = 6), and more rarely in BRAF (n = 2) and RASA1 (n = 3). KRAS variants were significantly (P < 0.005) associated with severe extended facial arteriovenous malformations, for which relapse after surgical resection is frequently observed, while MAP2K1 variants were significantly (P < 0.005) associated with less severe, limited arteriovenous malformations located on the lips.
conclusionsOur 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.
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