TY - T1 - A high definition picture of somatic mutations in chronic lymphoproliferative disorder of natural killer cells SN - / UR - http://hdl.handle.net/10138/315266 T3 - A1 - Gasparini, Vanessa Rebecca; Binatti, Andrea; Coppe, Alessandro; Teramo, Antonella; Vicenzetto, Cristina; Calabretto, Giulia; Barila, Gregorio; Barizza, Annica; Giussani, Edoardo; Facco, Monica; Mustjoki, Satu; Semenzato, Gianpietro; Zambello, Renato; Bortoluzzi, Stefania A2 - PB - Y1 - 2020 LA - eng AB - The molecular pathogenesis of chronic lymphoproliferative disorder of natural killer (NK) cells (CLPD-NK) is poorly understood. Following the screening of 57 CLPD-NK patients, only five presented STAT3 mutations. WES profiling of 13 cases negative for STAT3/STAT5B mutations uncovered an average of 18 clonal, population rare and deleterious somatic variants per patient. The mutational landscape of CLPD-NK showed that most patients carry a heavy mutational burden, with major and subclonal deleteri... VO - IS - SP - OP - KW - STAT3 MUTATIONS; GENOMIC LANDSCAPE; PATHOGENESIS; LEUKEMIA; TET2; HEMATOPOIESIS; GENETICS; DISEASE; 3122 Cancers N1 - PP - ER -