Arteriovenous malformation phenotype resembling congenital hemangioma contains KRAS mutations.

Autor: Sudduth CL; Department of Plastic and Oral Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., McGuire AM; Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Smits PJ; Department of Plastic and Oral Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Konczyk DJ; Department of Plastic and Oral Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Al-Ibraheemi A; Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Fishman SJ; Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Greene AK; Department of Plastic and Oral Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 2020 Dec; Vol. 98 (6), pp. 595-597. Date of Electronic Publication: 2020 Sep 02.
DOI: 10.1111/cge.13833
Abstrakt: 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.
(© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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