ArticleBiomedicines2022
Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study.
Article in Biomedicines, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 28 citations in OpenAlex.
- Clinical and molecular characterization of non-PIK3CA-related vascular malformations with overgrowth in a pediatric cohort.World journal of pediatrics : WJP · 2026Article
- Detection rate and mutational landscape in extracranial arteriovenous malformations: a cohort study.BMC medicine · 2026Article
- When lesion-directed therapy is not enough: blue rubber bleb nevus syndrome in a young adult-a case report.Frontiers in pediatrics · 2026Article
- Ultra-deep targeted next-generation sequencing with peripheral blood in patients with vascular malformations: a cohort of 40 patients.Molecular biology reports · 2025Article
- Spontaneous Regression of a Verrucous Venous Malformation Associated with a Previously Undescribed MAP3K3 Variant.Acta dermato-venereologica · 2025Article
- Novel postzygoticClinical case reports · 2024Article
- Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.Orphanet journal of rare diseases · 2023Article
- The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms.International journal of molecular sciences · 2022Review
- Malignant melanotic nerve sheath tumor with PRKAR1A, KMT2C, and GNAQ mutations.Free neuropathology · 2022Article
Corrections and comments
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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
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