Evidence map›Paper›PMID 42138076›Full record

ReviewThe Journal of clinical investigation2026

Towards precision medicine for brain arteriovenous malformations.

Andrew T Hale, Adam J Kundishora, Pazhanichamy Kalailingam, Tanyeri Barak, Phan Q Duy, Christopher M Ramundo, Baojian Fan, Qiang Li, Priscilla K Brastianos, Ganesh M Shankar and 4 more

Abstract readReview
In one paragraph

Review in The Journal of clinical investigation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Andrew T HaleDepartment of Neurosurgery, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Adam J KundishoraDivision of Neurosurgery, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Pazhanichamy KalailingamCenter for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
Tanyeri BarakDepartment of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut, USA.
Phan Q DuyDepartment of Neurosurgery, Harvard Medical School and Massachusetts General Hospital, Boston, Massachusetts, USA.
Christopher M RamundoDepartment of Neurosurgery, Harvard Medical School and Massachusetts General Hospital, Boston, Massachusetts, USA.
Baojian FanDepartment of Neurosurgery, Harvard Medical School and Massachusetts General Hospital, Boston, Massachusetts, USA.
Qiang LiDepartment of Neurosurgery, Harvard Medical School and Massachusetts General Hospital, Boston, Massachusetts, USA.
Priscilla K BrastianosDepartment of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
Ganesh M ShankarDepartment of Neurosurgery, Harvard Medical School and Massachusetts General Hospital, Boston, Massachusetts, USA.
Seth L AlperDepartment of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
Benjamin P KleinstiverCenter for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
Patricia L MusolinoCenter for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
Kristopher T KahleDepartment of Neurosurgery, Harvard Medical School and Massachusetts General Hospital, Boston, Massachusetts, USA.

Funding

Human Genetics and Molecular Mechanisms of Vein of Galen Aneurysmal MalformationR01NS117609 · NINDS · YALE UNIVERSITY · PI Titus Jonathon Boggon, Kristopher T. Kahle · 2020 to 2026
$3.3M
NINDS NIH HHS R01 NS117609
6 · The paper itself

Abstract

Recent advances in cerebrovascular genomics, single-cell biology, pharmacology, and gene editing technology are transforming our understanding of brain arteriovenous malformations (bAVMs) - a leading cause of pediatric hemorrhagic stroke. Once considered static anatomical defects, bAVMs are now recognized as dynamic, genetically driven lesions resulting from somatic mutations in KRAS, BRAF, and pathways involved in arteriovenous specification, angiogenesis, and vascular remodeling. By integrating human genetics, animal models, and endovascular innovations, researchers have uncovered convergent mechanisms that link endothelial Ras/MAPK hyperactivation to abnormal vessel growth and higher rupture risk. These insights provide a foundation for precision medicine approaches that combine molecular diagnostics - such as liquid or endoluminal biopsies - with mutation-specific pharmacotherapies and emerging CRISPR-based gene editing strategies. We suggest that genotype-guided interventions, tailored by spatial and developmental cerebrovascular context, could ultimately reclassify bAVMs from surgically incurable malformations to treatable molecular conditions.

Indexed as

Intracranial Arteriovenous MalformationsMutationPrecision MedicineAnimalsHumans

Identifiers

PMID42138076
PMCPMC13178655

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Registered trials

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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.