Arteriovenous malformation phenotype resembling congenital hemangioma contains KRAS mutations.
KRAS
arteriovenous malformation
congenital
hemangioma
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
12 2020
12 2020
Historique:
received:
21
07
2020
revised:
10
08
2020
accepted:
13
08
2020
pubmed:
18
8
2020
medline:
17
8
2021
entrez:
18
8
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32799314
doi: 10.1111/cge.13833
pmc: PMC7955771
mid: NIHMS1676935
doi:
Substances chimiques
KRAS protein, human
0
Proto-Oncogene Proteins p21(ras)
EC 3.6.5.2
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
595-597Subventions
Organisme : NICHD NIH HHS
ID : R01 HD093735
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL127030
Pays : United States
Informations de copyright
© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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