Circulating tumor DNA reveals genetics, clonal evolution, and residual disease in classical Hodgkin lymphoma

作者：Valeria Spina, Alessio Bruscaggin, Annarosa Cuccaro, Maurizio Martini, Martina Di Trani, Gabriela Forestieri, Martina Manzoni, Adalgisa Condoluci, Alberto J. Arribas, Lodovico Terzi-di-Bergamo, Silvia L. Locatelli, Elisa Cupelli, Luca Ceriani, Alden A. Moccia, Anastasios Stathis, Luca Nassi, Clara Deambrogi, Fary Diop, Francesca Guidetti, Alessandra Cocomazzi, Salvatore Annunziata, Vittoria Rufini, Alessandro Giordano, Antonino Neri, Renzo Luciano Boldorini, Bernhard Gerber, Francesco Bertoni, Michele E. G. Ghielmini, Georg Stüssi, Armando Santoro, Franco Cavalli, Emanuele Zucca, Luigi Maria Larocca, Gianluca Gaïdano, Stefan Hohaus, Carmelo Carlo‐Stella, Davide Rossi · 发表于：Blood · 年份：2018 · DOI：10.1182/blood-2017-11-812073 · 被引用次数：343 · 研究领域：Lymphoma Diagnosis and Treatment、Cancer Genomics and Diagnostics、Genetic factors in colorectal cancer

as the most frequently mutated gene in ∼40% of cases, we refined the current knowledge of cHL genetics. Longitudinal ctDNA profiling identified treatment-dependent patterns of clonal evolution in patients relapsing after chemotherapy and patients maintained in partial remission under immunotherapy. By measuring ctDNA changes during therapy, we propose ctDNA as a radiation-free tool to track residual disease that may integrate positron emission tomography imaging for the early identification of chemorefractory patients with cHL. Collectively, our results provide the proof of concept that ctDNA may serve as a novel precision medicine biomarker in cHL.