Many advanced cases of cancer show central nervous system, pleural, or peritoneal involvement. In this study, we prospectively analyzed if cerebrospinal fluid (CSF), pleural effusion (PE), and/or ascites (ASC) can be used to detect driver mutations and guide treatment decisions. We collected 42 CSF, PE, and ASC samples from advanced non-small-cell lung cancer and melanoma patients. Cell-free DNA (cfDNA) was purified and driver mutations analyzed and quantified by PNA-Q-PCR or next-generation sequencing. All 42 fluid samples were evaluable; clinically relevant mutations were detected in 41 (97.6%). Twenty-three fluids had paired blood samples, 22 were mutation positive in fluid but only 14 in blood, and the abundance of the mutant alleles was significantly higher in fluids. Of the 34 fluids obtained at progression to different therapies, EGFR resistance mutations were detected in nine and ALK acquired mutations in two. The results of testing of CSF, PE, and ASC were used to guide treatm..... READ ARTICLE
Molecular Oncology DOI:10.1002/1878-0261.12574
Authors: Sergio Villatoro, Clara Mayo-de-las-Casas, Núria Jordana-Ariza, Santiago Viteri-Ramírez, Mónica Garzón-Ibañez, Irene Moya-Horno, Beatriz García-Peláez, María González-Cao, Umberto Malapelle, Ariadna Balada-Bel, Alejandro Martínez-Bueno, Raquel Campos, Noemí Reguart, Margarita Majem, Remei Blanco, Ana Blasco, María J. Catalán, Xavier González, Giancarlo Troncone, Niki Karachaliou, Rafael Rosell, Miguel A. Molina-Vila