| Summary: | Objectives:. To identify genetic variants in venous malformations for noninvasive diagnosis using peripheral plasma Cell-free DNA (cfDNA) after ethanol embolization.
Method:. In this prospective, multicenter and cross-sectional study with a total of 121 patients with venous malformation, next-generation sequencing with a targeted panel of 40 specific genes was conducted to detect variants. We collected peripheral blood samples, cfDNA samples isolated from peripheral plasma before and 1 hour after ethanol embolization in 24 patients in a pilot study, and paired lesion plasma samples in 7 of those patients. Then variant profiles of peripheral postembolization plasma cfDNA were prospectively collected and analyzed from 97 patients in an independent validation group.
Results:. Variants were detected in cfDNA samples, but none was detected in paired peripheral blood. The prevalence of TEK/PIK3CA variant in peripheral pre-embolization, postembolization, and lesion plasma cfDNA were 12.5%, 87.5%, and 71.4% (P < .0001), respectively, which areas under the ROC curve of 0.5625 (P = .4579), 0.9375 (P < .0001), and 0.8571 (P = .0253), respectively. In a prospective independent validation group with postembolization cfDNA analysis in 97 patients, 119 variants were identified in 90.7% (88/97) of patients with areas under the ROC curve of 0.9545 (P < .0001).
Conclusion:. cfDNA from peripheral postembolization plasma bears safe, sensitive, and reliable diagnostic potential for venous malformations.
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