ArticleGenes, chromosomes & cancer2019
Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases.
Article in Genes, chromosomes & cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 83 citations in OpenAlex.
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- Ultra-deep targeted next-generation sequencing with peripheral blood in patients with vascular malformations: a cohort of 40 patients.Molecular biology reports · 2025Article
- Semaphorin 3A and 3F Promote Lumen Expansion in TIE2-Mutated Venous Malformation.Arteriosclerosis, thrombosis, and vascular biology · 2025Article
- Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies.American journal of medical genetics. Part A · 2025Article
- What the Interventional Radiologist Needs to Know about the Genetics of Vascular Anomalies.Seminars in interventional radiology · 2024Review
- Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.Orphanet journal of rare diseases · 2024Article
- Extracranial Vascular Anomalies Driven by RAS/MAPK Variants: Spectrum and Genotype-Phenotype Correlations.Journal of the American Heart Association · 2024Article
- Improving genetic diagnostic yield in a large cohort of children with rare vascular anomalies orGenetics in medicine open · 2024Article
- Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel-Trenaunay syndrome in an Asian population : List the full names and institutional addresses for all authors.Orphanet journal of rare diseases · 2023Article
- Barriers to Genetic Testing in Vascular Malformations.JAMA network open · 2023Article
- Co-existence of 2 clinically significant variants causing disorders of somatic mosaicism.Genetics in medicine open · 2023Article
- Magnitude and relevance of change in health-related quality of life in patients with vascular malformations treated with sirolimus.Frontiers in medicine · 2023Article
- Comprehensive targeted next-generation sequencing in patients with slow-flow vascular malformations.Journal of human genetics · 2022Article
- When, where and which PIK3CA mutations are pathogenic in congenital disorders.Nature cardiovascular research · 2022Review
- Effective low-dose sirolimus regimen for kaposiform haemangioendothelioma with Kasabach-Merritt phenomenon in young infants.British journal of clinical pharmacology · 2022Article
- Genetic understanding of vascular anomalies: better classification and risk-stratification with targeted therapeutic options - a new horizon for vascular anomaly patients.Journal of the European Academy of Dermatology and Venereology : JEADV · 2022Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Vascular malformations are part of overgrowth syndromes characterized by somatic mosaic mutations or rarely by germline mutations. Due to their similarities and diversity, clinicopathological classification can be challenging. A comprehensive targeted Next Generation Sequencing screen using Unique Molecular Identifiers with a technical sensitivity of 1% mutant alleles was performed for frequently mutated positions in ≥21 genes on 319 formalin-fixed paraffin-embedded samples. In 132 out of 319 cases pathogenic mosaic mutations were detected affecting genes previously linked to vascular malformations e.g. PIK3CA (n=80), TEK (TIE2) (n=11), AKT1 (n=1), GNAQ (n=7), GNA11 (n=4), IDH1 (n=3), KRAS (n=9), and NRAS (n=1). Six cases harbored a combination of mutations in PIK3CA and in GNA11 (n=2), GNAQ (n=2), or IDH1 (n=2). Aberrations in PTEN and RASA1 with a variant allele frequency approaching 50% suggestive of germline origin were identified in six out of 102 cases tested; four contained a potential second hit at a lower allele frequency. Ninety-one of the total 142 pathogenic mutations were present at a variant allele frequency <10% illustrating the importance of sensitive molecular analysis. Clinicopathological characteristics showed a broad spectrum and overlap when correlated with molecular data. Sensitive screening of recurrently mutated genes in vascular malformations may help to confirm the diagnosis and reveals potential therapeutic options with a significant contribution of PIK3CA/mTOR and RAS-MAPK pathway mutations. The co-existence of two activating pathogenic mutations in parallel pathways illustrates potential treatment challenges and underlines the importance of multigene testing. Detected germline mutations have major clinical impact.
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