A pilot study of next generation sequencing-liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel-Trenaunay syndrome.

Maria PalmieriAnna Maria PintoLaura di BlasioAurora CurròValentina MonicaLaura Di SarnoGabriella DoddatoMargherita BaldassarriElisa FrullantiAnnarita GilibertiBenedetta MussolinChiara FalleriniFrancesco MolinaroMassimo VaghiAlessandra RenieriLuca Primo

Published in: Vascular (2020)

Our data prove for the first time that the cell-free DNA-next generation sequencing-liquid biopsy, which is currently used exclusively in an oncologic setting, is indeed the most effective tool for Klippel-Trenaunay syndrome diagnosis and tailored personalized treatment.

Keyphrases

ultrasound guided
copy number
ionic liquid
fine needle aspiration
case report
electronic health record
circulating tumor
dna methylation
gene expression
deep learning
data analysis