{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:15:59Z","timestamp":1790615759596,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,3,11]],"date-time":"2022-03-11T00:00:00Z","timestamp":1646956800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2022,6]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n Somatic genetic variants may be the cause of extracranial arteriovenous malformations, but few studies have explored these genetic anomalies, and no genotype\u2013phenotype correlations have been identified.<\/jats:p>\n <\/jats:sec>\n \n Objectives<\/jats:title>\n The 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.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n This study included twenty\u2010three patients with extracranial arteriovenous malformations that were confirmed clinically and treated by surgical resection, and for whom frozen tissue samples were available. Targeted next\u2010generation sequencing analysis of tissues was performed using a gene panel that included vascular disease\u2010related genes and tumour\u2010related genes.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n We identified a pathogenic variant in 18 out of 23 samples (78.3%). Pathogenic variants were mainly located in\n MAP2K1<\/jats:italic>\n (\n n<\/jats:italic>\n \u2009=\u20097) and\n KRAS<\/jats:italic>\n (\n n<\/jats:italic>\n \u2009=\u20096), and more rarely in\n BRAF<\/jats:italic>\n (\n n<\/jats:italic>\n \u2009=\u20092) and\n RASA1<\/jats:italic>\n (\n n<\/jats:italic>\n \u2009=\u20093).\n KRAS<\/jats:italic>\n variants were significantly (\n P<\/jats:italic>\n \u2009<\u20090.005) associated with severe extended facial arteriovenous malformations, for which relapse after surgical resection is frequently observed, while\n MAP2K1<\/jats:italic>\n variants were significantly (\n P<\/jats:italic>\n \u2009<\u20090.005) associated with less severe, limited arteriovenous malformations located on the lips.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n Our study highlights a high prevalence of pathogenic somatic variants, predominantly in\n MAP2K1<\/jats:italic>\n and\n KRAS,<\/jats:italic>\n 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\n RAS\/MAPK<\/jats:italic>\n 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.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/jdv.18046","type":"journal-article","created":{"date-parts":[[2022,3,3]],"date-time":"2022-03-03T02:48:00Z","timestamp":1646275680000},"page":"905-912","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Somatic mutational landscape of extracranial arteriovenous malformations and phenotypic correlations"],"prefix":"10.1111","volume":"36","author":[{"given":"F.N.","family":"El Sissy","sequence":"first","affiliation":[{"name":"Sorbonne Universit\u00e9 D\u00e9partement de g\u00e9n\u00e9tique Assistance Publique\u2010H\u00f4pitaux de Paris H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re Paris France"},{"name":"Department of Pathology Lariboisi\u00e8re Hospital Assistance Publique\u2010H\u00f4pitaux de Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Wassef","sequence":"additional","affiliation":[{"name":"Department of Pathology Lariboisi\u00e8re Hospital Assistance Publique\u2010H\u00f4pitaux de Paris Paris France"},{"name":"Faculty of Medicine University of Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Faucon","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology Lariboisi\u00e8re Hospital Assistance Publique\u2010H\u00f4pitaux de Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Salvan","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology Lariboisi\u00e8re Hospital Assistance Publique\u2010H\u00f4pitaux de Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Nadaud","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9 INSERM UMR_S1166 Unit\u00e9 de Recherche sur les Maladies Cardiovasculaires, le M\u00e9tabolisme et la Nutrition ICAN Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Coulet","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9 D\u00e9partement de g\u00e9n\u00e9tique Assistance Publique\u2010H\u00f4pitaux de Paris H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Adle\u2010Biassette","sequence":"additional","affiliation":[{"name":"Department of Pathology Lariboisi\u00e8re Hospital Assistance Publique\u2010H\u00f4pitaux de Paris Paris France"},{"name":"Faculty of Medicine University of Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Soubrier","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9 D\u00e9partement de g\u00e9n\u00e9tique Assistance 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