Technical considerations for circulating tumor DNA detection in oncology.
Fiche publication
Date publication
janvier 2019
Journal
Expert review of molecular diagnostics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr HARLE Alexandre, Pr MERLIN Jean-Louis, Dr GILSON Pauline
Tous les auteurs :
Franczak C, Filhine-Tresarrieu P, Gilson P, Merlin JL, Au L, Harlé A
Lien Pubmed
Résumé
Blood drawing or collections of other body fluids, known as "liquid biopsy" are often less invasive procedure than tumor biopsies. Cell-free tumor DNA (ctDNA) is widely evaluated in cancer for early detection, diagnosis, prognosis, therapy monitoring or determination of minimal residual disease. In body fluid samples, ctDNA can represent a small fraction of total cell-free DNA (cfDNA), requiring highly-sensitive assays. Areas covered: The first part of this review is dedicated to critical preanalytical points necessary to obtain suitable samples for cfDNA analysis. The second part describes the several available techniques (PCR-based assays and next generation sequencing) for ctDNA analysis from plasma or other body fluids. Expert commentary: Detection of ctDNA is emerging as a powerful adjunct in the management of patients with cancer. For reliable ctDNA detection, control of pre-analytical steps from sampling to DNA extraction is crucial. Various techniques and approaches are available for cfDNA detection, but one needs to consider the appropriate application for the patient's clinical trajectory, whether it is for diagnosis or disease monitoring. Broad screening assays like Next Generation Sequencing should be used for early cancer detection or for tumor molecular characterization to guide therapy options in a molecular board context. Techniques designed for unique hotspot or well identified mutations are the most sensitive and should be used for monitoring purposes.
Mots clés
Circulating tumor DNA, liquid biopsy, mass spectrometry, next-generation sequencing, polymerase chain reaction, preanalyticial
Référence
Expert Rev. Mol. Diagn.. 2019 Jan 16;: