Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study.
CLOVES syndrome
KRAS
Klippel–Trenaunay syndrome
PIK3CA-related overgrowth
Parkes Weber syndrome
RASA1
TEK
blue rubber bleb nevus syndrome
diffuse capillary malformation with overgrowth
megalencephaly–capillary malformation–polymicrogyria syndrome
somatic mutation
Journal
Biomedicines
ISSN: 2227-9059
Titre abrégé: Biomedicines
Pays: Switzerland
ID NLM: 101691304
Informations de publication
Date de publication:
20 Jun 2022
20 Jun 2022
Historique:
received:
29
01
2022
revised:
22
05
2022
accepted:
16
06
2022
entrez:
24
6
2022
pubmed:
25
6
2022
medline:
25
6
2022
Statut:
epublish
Résumé
Sporadic vascular malformations (VMs) are a large group of disorders of the blood and lymphatic vessels caused by somatic mutations in several genes-mainly regulating the RAS/MAPK/ERK and PI3K/AKT/mTOR pathways. We performed a cross-sectional study of 43 patients affected with sporadic VMs, who had received molecular diagnosis by high-depth targeted next-generation sequencing in our center. Clinical and imaging features were correlated with the sequence variants identified in lesional tissues. Six of nine patients with capillary malformation and overgrowth (CMO) carried the recurrent
Identifiants
pubmed: 35740480
pii: biomedicines10061460
doi: 10.3390/biomedicines10061460
pmc: PMC9220263
pii:
doi:
Types de publication
Journal Article
Langues
eng
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