Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy.

ABSTRACT: Several different nosological classifications have been used over time for vascular malformations (VMs) since clinical and pathological signs are largely overlapping. In a large proportion of cases, VMs are generated by somatic mosaicism in key genes, belonging to a few different molecular pathways. Therefore, molecular characterization may help in the understanding of the biological mechanisms related to the development of pathology. Tissue biopsy is not routinely included in the diagnostic path because of the need for fresh tissue specimens and the risk of bleeding. Bypassing the need for bioptic samples, we took advantage of the possibility of isolating cell-free DNA likely released by the affected tissues, to molecularly characterize 53 patients by cfDNA-NGS liquid biopsy. We found a g

SUBMITTER: Serio VB 

PROVIDER: S-EPMC9267326 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature