AUTHOR=Laprovitera Noemi , Salamon Irene , Gelsomino Francesco , Porcellini Elisa , Riefolo Mattia , Garonzi Marianna , Tononi Paola , Valente Sabrina , Sabbioni Silvia , Fontana Francesca , Manaresi Nicolò , D’Errico Antonia , Pantaleo Maria A. , Ardizzoni Andrea , Ferracin Manuela TITLE=Genetic Characterization of Cancer of Unknown Primary Using Liquid Biopsy Approaches JOURNAL=Frontiers in Cell and Developmental Biology VOLUME=9 YEAR=2021 URL=https://www.frontiersin.org/journals/cell-and-developmental-biology/articles/10.3389/fcell.2021.666156 DOI=10.3389/fcell.2021.666156 ISSN=2296-634X ABSTRACT=
Cancers of unknown primary (CUPs) comprise a heterogeneous group of rare metastatic tumors whose primary site cannot be identified after extensive clinical–pathological investigations. CUP patients are generally treated with empirical chemotherapy and have dismal prognosis. As recently reported, CUP genome presents potentially druggable alterations for which targeted therapies could be proposed. The paucity of tumor tissue, as well as the difficult DNA testing and the lack of dedicated panels for target gene sequencing are further relevant limitations. Here, we propose that circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA) could be used to identify actionable mutations in CUP patients. Blood was longitudinally collected from two CUP patients. CTCs were isolated with CELLSEARCH® and DEPArrayTM NxT and Parsortix systems, immunophenotypically characterized and used for single-cell genomic characterization with