Endoluminal Biopsy for Molecular Profiling of Human Brain Vascular Malformations.
Ethan WinklerDavid WuEugene GilDavid McCoyKazim NarsinhZhengda SunKerstin MuellerJayden RossHelen KimShantel WeinsheimerMitchel BergerTomasz NowakowskiDaniel LimAdib AblaDaniel L CookePublished in: Neurology (2022)
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.
Keyphrases
- minimally invasive
- ultrasound guided
- single cell
- fine needle aspiration
- end stage renal disease
- ejection fraction
- chronic kidney disease
- newly diagnosed
- gene expression
- signaling pathway
- oxidative stress
- prognostic factors
- copy number
- genome wide
- coronary artery bypass
- rna seq
- dna methylation
- high resolution
- molecularly imprinted
- atrial fibrillation
- percutaneous coronary intervention
- wild type