ArticleNeurology2022
Endoluminal Biopsy for Molecular Profiling of Human Brain Vascular Malformations.
Erratum issuedOpen access · bronzeAbstract read
In one paragraph
Article in Neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 23 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
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23citing papers in PubMed, 2 pooled it
3.7field-weighted citation impact, top 6% of its field
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Who cites it
23 citing papers in PubMed, 2 syntheses or guidelines pooled it, 31 citations in OpenAlex.
- Endovascular biopsy in neurointerventional surgery: A systematic review.Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences · 2026Pooled it
- Pediatric Intracerebral Hemorrhage Management-Consensus Statement of the International Pediatric Stroke Organization-Part 1: Acute Phase and Workup.Journal of the American Heart Association · 2026Guideline
- Towards precision medicine for brain arteriovenous malformations.The Journal of clinical investigation · 2026Review
- Advances in the Genetics and Molecular Biology of Brain Arteriovenous Malformations.Translational stroke research · 2026Review
- Targeting Arterial Dysfunction in Cardiovascular Disease Using Stem Cell-Based Therapies.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Review
- Endothelial Cell Genetics in Carotid Artery Atherosclerosis and Intracranial Atherosclerosis: A Systematic Review.Stroke (Hoboken, N.J.) · 2025Review
- Characterizing the Microenvironment of Cerebral Arteriovenous Malformations to Test Novel Treatment Modalities.Brain sciences · 2025Review
- An opportune time for targeted brain arteriovenous malformation therapy.Journal of neurosurgery · 2025Article
- Recent Advances in Interventional Management of Extracranial Vascular Malformations in Children.Seminars in interventional radiology · 2025Review
- Clinical indications and patient outcomes of intracranial venous sinus stenting beyond overt idiopathic intracranial hypertension: a scoping review.Acta neurochirurgica · 2025Article
- From bench to bedside: murine models of inherited and sporadic brain arteriovenous malformations.Angiogenesis · 2025Review
- Basic Knowledge and Overview of Brain AVMs.Journal of neuroendovascular therapy · 2025Review
- Review
- Perspectives on Brain Arteriovenous Malformations From the Surgical Battlefield.Stroke (Hoboken, N.J.) · 2024Article
- What the Interventional Radiologist Needs to Know about the Genetics of Vascular Anomalies.Seminars in interventional radiology · 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
- Simulation and Optimization: A New Direction in Supercritical Technology Based Nanomedicine.Bioengineering (Basel, Switzerland) · 2023Review
- The Role and Therapeutic Implications of Inflammation in the Pathogenesis of Brain Arteriovenous Malformations.Biomedicines · 2023Review
- Article
Corrections and comments
- Erratum issued
Authors and funding
15 authors at 1 institution in 1 country.
Ethan WinklerFrom the Department of Neurological Surgery (E.W., D.W., E.G., J.R., M.B., D.L., A.A.), Department of Radiology and Biomedical Imaging (D.M., K.N., Z.S., D.C.), Center for Cerebrovascular Research (H.K., S.W.), Department of Psychiatry (T.N.), Department of Behavioral Sciences (T.N.), and Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research (T.N., D.L.), University of California San Francisco; Siemens Medical Solutions Inc (K.M.), Malvern, PA; and Department of Anatomy (J.R., T.N.), University of California San Francisco, Chan Zuckerberg Biohub.
David WuFrom the Department of Neurological Surgery (E.W., D.W., E.G., J.R., M.B., D.L., A.A.), Department of Radiology and Biomedical Imaging (D.M., K.N., Z.S., D.C.), Center for Cerebrovascular Research (H.K., S.W.), Department of Psychiatry (T.N.), Department of Behavioral Sciences (T.N.), and Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research (T.N., D.L.), University of California San Francisco; Siemens Medical Solutions Inc (K.M.), Malvern, PA; and Department of Anatomy (J.R., T.N.), University of California San Francisco, Chan Zuckerberg Biohub.
Eugene GilFrom the Department of Neurological Surgery (E.W., D.W., E.G., J.R., M.B., D.L., A.A.), Department of Radiology and Biomedical Imaging (D.M., K.N., Z.S., D.C.), Center for Cerebrovascular Research (H.K., S.W.), Department of Psychiatry (T.N.), Department of Behavioral Sciences (T.N.), and Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research (T.N., D.L.), University of California San Francisco; Siemens Medical Solutions Inc (K.M.), Malvern, PA; and Department of Anatomy (J.R., T.N.), University of California San Francisco, Chan Zuckerberg Biohub.
David McCoyFrom the Department of Neurological Surgery (E.W., D.W., E.G., J.R., M.B., D.L., A.A.), Department of Radiology and Biomedical Imaging (D.M., K.N., Z.S., D.C.), Center for Cerebrovascular Research (H.K., S.W.), Department of Psychiatry (T.N.), Department of Behavioral Sciences (T.N.), and Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research (T.N., D.L.), University of California San Francisco; Siemens Medical Solutions Inc (K.M.), Malvern, PA; and Department of Anatomy (J.R., T.N.), University of California San Francisco, Chan Zuckerberg Biohub.
Kazim NarsinhFrom the Department of Neurological Surgery (E.W., D.W., E.G., J.R., M.B., D.L., A.A.), Department of Radiology and Biomedical Imaging (D.M., K.N., Z.S., D.C.), Center for Cerebrovascular Research (H.K., S.W.), Department of Psychiatry (T.N.), Department of Behavioral Sciences (T.N.), and Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research (T.N., D.L.), University of California San Francisco; Siemens Medical Solutions Inc (K.M.), Malvern, PA; and Department of Anatomy (J.R., T.N.), University of California San Francisco, Chan Zuckerberg Biohub.
Zhengda SunFrom the Department of Neurological Surgery (E.W., D.W., E.G., J.R., M.B., D.L., A.A.), Department of Radiology and Biomedical Imaging (D.M., K.N., Z.S., D.C.), Center for Cerebrovascular Research (H.K., S.W.), Department of Psychiatry (T.N.), Department of Behavioral Sciences (T.N.), and Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research (T.N., D.L.), University of California San Francisco; Siemens Medical Solutions Inc (K.M.), Malvern, PA; and Department of Anatomy (J.R., T.N.), University of California San Francisco, Chan Zuckerberg Biohub.
Kerstin MuellerFrom the Department of Neurological Surgery (E.W., D.W., E.G., J.R., M.B., D.L., A.A.), Department of Radiology and Biomedical Imaging (D.M., K.N., Z.S., D.C.), Center for Cerebrovascular Research (H.K., S.W.), Department of Psychiatry (T.N.), Department of Behavioral Sciences (T.N.), and Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research (T.N., D.L.), University of California San Francisco; Siemens Medical Solutions Inc (K.M.), Malvern, PA; and Department of Anatomy (J.R., T.N.), University of California San Francisco, Chan Zuckerberg Biohub.ORCID 0000-0002-8787-2623
Jayden RossFrom the Department of Neurological Surgery (E.W., D.W., E.G., J.R., M.B., D.L., A.A.), Department of Radiology and Biomedical Imaging (D.M., K.N., Z.S., D.C.), Center for Cerebrovascular Research (H.K., S.W.), Department of Psychiatry (T.N.), Department of Behavioral Sciences (T.N.), and Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research (T.N., D.L.), University of California San Francisco; Siemens Medical Solutions Inc (K.M.), Malvern, PA; and Department of Anatomy (J.R., T.N.), University of California San Francisco, Chan Zuckerberg Biohub.
Helen KimFrom the Department of Neurological Surgery (E.W., D.W., E.G., J.R., M.B., D.L., A.A.), Department of Radiology and Biomedical Imaging (D.M., K.N., Z.S., D.C.), Center for Cerebrovascular Research (H.K., S.W.), Department of Psychiatry (T.N.), Department of Behavioral Sciences (T.N.), and Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research (T.N., D.L.), University of California San Francisco; Siemens Medical Solutions Inc (K.M.), Malvern, PA; and Department of Anatomy (J.R., T.N.), University of California San Francisco, Chan Zuckerberg Biohub.ORCID 0000-0002-1937-354X
Shantel WeinsheimerFrom the Department of Neurological Surgery (E.W., D.W., E.G., J.R., M.B., D.L., A.A.), Department of Radiology and Biomedical Imaging (D.M., K.N., Z.S., D.C.), Center for Cerebrovascular Research (H.K., S.W.), Department of Psychiatry (T.N.), Department of Behavioral Sciences (T.N.), and Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research (T.N., D.L.), University of California San Francisco; Siemens Medical Solutions Inc (K.M.), Malvern, PA; and Department of Anatomy (J.R., T.N.), University of California San Francisco, Chan Zuckerberg Biohub.
Mitchel BergerFrom the Department of Neurological Surgery (E.W., D.W., E.G., J.R., M.B., D.L., A.A.), Department of Radiology and Biomedical Imaging (D.M., K.N., Z.S., D.C.), Center for Cerebrovascular Research (H.K., S.W.), Department of Psychiatry (T.N.), Department of Behavioral Sciences (T.N.), and Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research (T.N., D.L.), University of California San Francisco; Siemens Medical Solutions Inc (K.M.), Malvern, PA; and Department of Anatomy (J.R., T.N.), University of California San Francisco, Chan Zuckerberg Biohub.
Tomasz NowakowskiFrom the Department of Neurological Surgery (E.W., D.W., E.G., J.R., M.B., D.L., A.A.), Department of Radiology and Biomedical Imaging (D.M., K.N., Z.S., D.C.), Center for Cerebrovascular Research (H.K., S.W.), Department of Psychiatry (T.N.), Department of Behavioral Sciences (T.N.), and Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research (T.N., D.L.), University of California San Francisco; Siemens Medical Solutions Inc (K.M.), Malvern, PA; and Department of Anatomy (J.R., T.N.), University of California San Francisco, Chan Zuckerberg Biohub.
Daniel LimFrom the Department of Neurological Surgery (E.W., D.W., E.G., J.R., M.B., D.L., A.A.), Department of Radiology and Biomedical Imaging (D.M., K.N., Z.S., D.C.), Center for Cerebrovascular Research (H.K., S.W.), Department of Psychiatry (T.N.), Department of Behavioral Sciences (T.N.), and Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research (T.N., D.L.), University of California San Francisco; Siemens Medical Solutions Inc (K.M.), Malvern, PA; and Department of Anatomy (J.R., T.N.), University of California San Francisco, Chan Zuckerberg Biohub.
Adib AblaFrom the Department of Neurological Surgery (E.W., D.W., E.G., J.R., M.B., D.L., A.A.), Department of Radiology and Biomedical Imaging (D.M., K.N., Z.S., D.C.), Center for Cerebrovascular Research (H.K., S.W.), Department of Psychiatry (T.N.), Department of Behavioral Sciences (T.N.), and Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research (T.N., D.L.), University of California San Francisco; Siemens Medical Solutions Inc (K.M.), Malvern, PA; and Department of Anatomy (J.R., T.N.), University of California San Francisco, Chan Zuckerberg Biohub.
Daniel CookeFrom the Department of Neurological Surgery (E.W., D.W., E.G., J.R., M.B., D.L., A.A.), Department of Radiology and Biomedical Imaging (D.M., K.N., Z.S., D.C.), Center for Cerebrovascular Research (H.K., S.W.), Department of Psychiatry (T.N.), Department of Behavioral Sciences (T.N.), and Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research (T.N., D.L.), University of California San Francisco; Siemens Medical Solutions Inc (K.M.), Malvern, PA; and Department of Anatomy (J.R., T.N.), University of California San Francisco, Chan Zuckerberg Biohub.ORCID 0000-0002-3694-413X
Broad Center · US
Funding
The Impact of COVID-19 on People Living with Rare Diseases and Their FamiliesU2CTR002818 · NCATS · CINCINNATI CHILDRENS HOSP MED CTR · PI Maurizio Macaluso · 2019 to 2026
$51.2MVCRC Administration UnitU54NS065705 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KIM, HELEN · 2009 to 2023
$20.8MNCATS NIH HHS U2C TR002818NINDS NIH HHS U54 NS065705
Abstract
BACKGROUND AND
objectivesRas-mitogen-activated protein kinase (MAPK) signaling abnormalities occur in most brain arteriovenous malformations (bAVMs). No means exist to molecularly profile bAVMs without open surgery, limiting precision medicine approaches to treatment. Here, we report use of endoluminal biopsy of the vessel lumen of bAVMs to characterize gene expression and blood flow-mediated transcriptional changes in living patients.
methodsEndoluminal biopsy and computational fluid dynamic modeling (CFD) were performed in adults with unruptured AVMs with cerebral angiography. Each patient underwent surgical resection and cell sampling from a contiguous arterial segment. Fluorescence-assisted cell sorting enriched endothelial cells, which were sequenced on an Illumina HiSeq 4000 sequencer. Gene expression was quantified with RNA sequencing (RNAseq). Differential gene expression, ontology, and correlative analyses were performed. Results were validated with quantitative reverse transcription PCR (RT-qPCR).
resultsEndoluminal biopsy was successful in 4 patients without complication. Endoluminal biopsy yielded 269.0 ± 79.9 cells per biopsy (control 309.2 ± 86.6 cells, bAVM 228.8 ± 133.4 cells). RNAseq identified 106 differentially expressed genes (DEGs) in bAVMs (false discovery rate ≤0.05). DEGs were enriched for bAVM pathogenic cascades, including Ras-MAPK signaling ( DISCUSSION: Endoluminal biopsy allows molecular profiling of bAVMs in living patients. Gene expression profiles are similar to those of tissues acquired with open surgery and identify potentially targetable Ras-MAPK signaling abnormalities in bAVMs. Integration with CFD allows determination of flow-mediated transcriptomic alterations. Endoluminal biopsy may help facilitate trials of precision medicine approaches to bAVMs in humans.
Indexed as
Embolization, TherapeuticIntracranial Arteriovenous MalformationsAdultBiopsyBrainEndothelial CellsHumans
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