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

Valeria Spina(Institute of Oncology Research), Alessio Bruscaggin(Institute of Oncology Research), Annarosa Cuccaro, Maurizio Martini(Università Cattolica del Sacro Cuore), Martina Di Trani(Humanitas University), Gabriela Forestieri(Institute of Oncology Research), Martina Manzoni(University of Milan), Adalgisa Condoluci(Institute of Oncology Research), Alberto J. Arribas(Institute of Oncology Research), Lodovico Terzi-di-Bergamo(Institute of Oncology Research), Silvia L. Locatelli(Humanitas University), Elisa Cupelli, Luca Ceriani(Institute of Oncology Research), Alden A. Moccia(Institute of Oncology Research), Anastasios Stathis(Institute of Oncology Research), Luca Nassi(Università degli Studi del Piemonte Orientale “Amedeo Avogadro”), Clara Deambrogi(Università degli Studi del Piemonte Orientale “Amedeo Avogadro”), Fary Diop(Università degli Studi del Piemonte Orientale “Amedeo Avogadro”), Francesca Guidetti(Institute of Oncology Research), Alessandra Cocomazzi(Università Cattolica del Sacro Cuore), Salvatore Annunziata(Università Cattolica del Sacro Cuore), Vittoria Rufini(Università Cattolica del Sacro Cuore), Alessandro Giordano(Università Cattolica del Sacro Cuore), Antonino Neri(University of Milan), Renzo Boldorini(Università degli Studi del Piemonte Orientale “Amedeo Avogadro”), B. Gerber(Institute of Oncology Research), Francesco Bertoni(Institute of Oncology Research), Michele Ghielmini(Institute of Oncology Research), Georg Stüssi(Institute of Oncology Research), Armando Santoro(Humanitas University), Franco Cavalli(Institute of Oncology Research), Emanuele Zucca(Institute of Oncology Research), Luigi Maria Larocca(Università Cattolica del Sacro Cuore), Gianluca Gaïdano(Università degli Studi del Piemonte Orientale “Amedeo Avogadro”), Stefan Hohaus, Carmelo Carlo‐Stella(Humanitas University), Davide Rossi(Institute of Oncology Research)
Blood
February 15, 2018
Cited by 334Open Access
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Abstract

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.


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