[HTML][HTML] Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations
K Zenner, DM Jensen, TT Cook, V Dmyterko, RA Bly… - Genetics in …, 2021 - Elsevier
Purpose Vascular malformations (VM) are primarily caused by somatic activating pathogenic
variants in oncogenes. Targeted pharmacotherapies are emerging but require molecular
diagnosis. Since variants are currently only detected in malformation tissue, patients may be
ineligible for clinical trials prior to surgery. We hypothesized that cell-free DNA (cfDNA) could
provide molecular diagnoses for patients with isolated VM. Methods cfDNA was isolated
from plasma or cyst fluid from patients with arteriovenous malformations (AVM), venous …
variants in oncogenes. Targeted pharmacotherapies are emerging but require molecular
diagnosis. Since variants are currently only detected in malformation tissue, patients may be
ineligible for clinical trials prior to surgery. We hypothesized that cell-free DNA (cfDNA) could
provide molecular diagnoses for patients with isolated VM. Methods cfDNA was isolated
from plasma or cyst fluid from patients with arteriovenous malformations (AVM), venous …