ArticleJVS-vascular science2020
Cell-free DNA next-generation sequencing liquid biopsy as a new revolutionary approach for arteriovenous malformation.
Article in JVS-vascular science, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 35 citations in OpenAlex.
- Evolving biopsy strategies for molecular profiling of brain arteriovenous malformations.Angiogenesis · 2026Review
- Advances in the Genetics and Molecular Biology of Brain Arteriovenous Malformations.Translational stroke research · 2026Review
- Ultra-deep targeted next-generation sequencing with peripheral blood in patients with vascular malformations: a cohort of 40 patients.Molecular biology reports · 2025Article
- Harnessing liquid biopsy to unveil RAS-MEK pathway somatic pathogenic variants in extracranial arterio-venous malformations.Communications medicine · 2025Article
- Characterizing the Microenvironment of Cerebral Arteriovenous Malformations to Test Novel Treatment Modalities.Brain sciences · 2025Review
- Recent Advances in Interventional Management of Extracranial Vascular Malformations in Children.Seminars in interventional radiology · 2025Review
- Identification of Somatic Genetic Variants in Superficial Vascular Malformations by Liquid Biopsy in a Cohort of 88 Patients from a French Hospital.Molecular diagnosis & therapy · 2025Article
- Innovative Use of Bleomycin Electrosclerotherapy (BEST) for High-Flow Arteriovenous Malformations in the Head District: Preliminary Results of Two Cases.Journal of clinical medicine · 2025Article
- Article
- Defining the transcriptome of PIK3CA-altered cells in a human capillary malformation using single cell long-read sequencing.Scientific reports · 2024Article
- What the Interventional Radiologist Needs to Know about the Genetics of Vascular Anomalies.Seminars in interventional radiology · 2024Review
- Review
- Updates in Genetic Testing for Head and Neck Vascular Anomalies.Oral and maxillofacial surgery clinics of North America · 2024Review
- Peripheral macrophages in the development and progression of structural cerebrovascular pathologies.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2024Review
- The expansion of liquid biopsies to vascular care: an overview of existing principles, techniques and potential applications to vascular malformation diagnostics.Frontiers in genetics · 2024Review
- Genomic profiling informs diagnoses and treatment in vascular anomalies.Nature medicine · 2023Article
- Vascular malformations: An overview of their molecular pathways, detection of mutational profiles and subsequent targets for drug therapy.Frontiers in neurology · 2023Review
- Molecular and genetic mechanisms in brain arteriovenous malformations: new insights and future perspectives.Neurosurgical review · 2022Review
- Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy.Journal of clinical medicine · 2022Article
- ISSVA Classification of Vascular Anomalies and Molecular Biology.International journal of molecular sciences · 2022Review
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveSomatic mosaicism of
methodsA group of five patients suffering from AVM were selected. Blood samples from peripheral vein and efferent vein from vascular malformation were collected and cfDNA was extracted. The cfDNA libraries were performed using Oncomine Pan-Cancer Cell-Free Assay. We used Ion Proton for sequencing and Ion Reporter Software for analysis (Life Technologies, Carlsbad, Calif).
resultsIn all cases, either G12D or G12V mutations in
conclusionsWe demonstrate that cfDNA next-generation sequencing liquid biopsy is able to identify the CLINICAL RELEVANCE: This article highlights the importance of using liquid biopsy as a new method to investigate the molecular profile of AVMs. In view of the frequent inaccessibility of vascular tissues owing to the invasiveness of solid biopsy and the relative high incidence of biopsies with low diagnostic power, here we evaluated the efficacy of detecting cfDNA fragments released into the bloodstream from the affected tissue cells. Through a simple blood draw from the efferent vein at the vascular malformation site, the liquid biopsy allowed us to identify
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.