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Neurology: Endoluminal biopsy can obtain a molecular map of brain arteriovenous malformation (bAVM), identify underlying gene expression signaling abnormalities, or help achieve precision medicine treatment!

 Last Update: 2022-04-22
 Source: Internet
 Author: User

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human fibroblast

transcriptome sequencing

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Brain arteriovenous malformations (bAVMs) are cerebral vascular malformations that form tangles of directly connecting blood vessels between arteries and veins
.

Some bAVMs can cause cerebral hemorrhage, which is a major cause of cerebral hemorrhage in young adults

Brain arteriovenous malformations (bAVMs) are cerebral vascular malformations that form tangles of directly connecting blood vessels between arteries and veins

Most arteriovenous malformations occur without a clear genetic cause (>95%), but recent new sequencing efforts have identified somatic activating mutations in the ras-MAPK signaling pathway , as in most sporadic bAVM protocancers The genes KRAS and BRAF

A study published in Neurology attempted to use the diagnostic gold standard of cerebral angiography, namely sampling cells from the vascular lumen from within the cerebral vasculature, to demonstrate the feasibility and accuracy of cerebral angiography-guided intraluminal biopsy, utilizing next- generation Molecular profiling of bAVMs by RNA sequencing (RNAseq) , identification of therapeutically targeted pathways, and inference of flow-mediated transcriptional alterations from unruptured bAVMs in living patients

Researchers performed intraluminal biopsies and computational fluid dynamics (CFD)in adult patients with unruptured cerebral arteriovenous malformations
.

Each patient underwent surgical resection and cells were sampled from adjacent arterial segments

Computational Fluid Dynamics (CFD) RNA Sequencing (RNAseq) Quantitative Reverse Transcription Polymerase Chain Reaction (RT-qPCR)

A total of 4 patients underwent intraluminal biopsy without complications
.
Intraluminal biopsy obtained 269.
0±79.
9 cells per case (control group: 309.
2±86.
6 cells; bAVM: 228.
8±133.
4)
.
RNAseq identified 106 differentially expressed genes (DEGs) in bAVM (FDR0.
05)
.
DEG enriched the bAVM pathogenic cascade including RAS-MAPK signaling (p<0.
05) and was confirmed by RT-qPCR and panel predictions of MAPK/extracellular signal-regulated kinase (MEK) inhibitor responses
.
Compared with patient-matched surgically resected tissue, endoluminal biopsy detected a strong correlation of 83.
3% of genes and genome-wide expression (Pearson r=0.
77)
.
CFD-measured wall shear stress was associated with upregulation of inflammatory pathways
.
Comparison of pre- and post-embolization samples confirmed flow-mediated changes in gene expression
.

A total of 4 patients underwent intraluminal biopsy without complications
.

Intraluminal biopsy obtained 269.
0±79.
9 cells per case (control group: 309.
2±86.
6 cells; bAVM: 228.
8±133.
4)
.

RNAseq identified 106 differentially expressed genes (DEGs) in bAVM (FDR0.

Gene expression profiling was similar to tissue obtained from open surgery and identified potentially targeted RAS-MAPK signaling abnormalities in bAVMs

Winkler EA, Wu D, Gil E, et al.

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