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  • Title: Arteriovenous malformation phenotype resembling congenital hemangioma contains KRAS mutations.
    Author: Sudduth CL, McGuire AM, Smits PJ, Konczyk DJ, Al-Ibraheemi A, Fishman SJ, Greene AK.
    Journal: Clin Genet; 2020 Dec; 98(6):595-597. PubMed ID: 32799314.
    Abstract:
    Extracranial arteriovenous malformation (AVM) is most commonly caused by a somatic mutation in MAP2K1. We report two patients with vascular anomalies that had an unclear clinical diagnosis most consistent with either an AVM or congenital hemangioma. Lesions were cutaneous, reddish-purple with telangiectasias, present at birth, and had defined borders. Histopathology indicated AVM and both lesions contained somatic KRAS mutations. A rare AVM phenotype exists that shares clinical features with congenital hemangioma.
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