作者
Li Ding, Timothy J Ley, David E Larson, Christopher A Miller, Daniel C Koboldt, John S Welch, Julie K Ritchey, Margaret A Young, Tamara Lamprecht, Michael D McLellan, Joshua F McMichael, John W Wallis, Charles Lu, Dong Shen, Christopher C Harris, David J Dooling, Robert S Fulton, Lucinda L Fulton, Ken Chen, Heather Schmidt, Joelle Kalicki-Veizer, Vincent J Magrini, Lisa Cook, Sean D McGrath, Tammi L Vickery, Michael C Wendl, Sharon Heath, Mark A Watson, Daniel C Link, Michael H Tomasson, William D Shannon, Jacqueline E Payton, Shashikant Kulkarni, Peter Westervelt, Matthew J Walter, Timothy A Graubert, Elaine R Mardis, Richard K Wilson, John F DiPersio
发表日期
2012/1/26
期刊
Nature
卷号
481
期号
7382
页码范围
506-510
出版商
Nature Publishing Group UK
简介
Most patients with acute myeloid leukaemia (AML) die from progressive disease after relapse, which is associated with clonal evolution at the cytogenetic level, . To determine the mutational spectrum associated with relapse, we sequenced the primary tumour and relapse genomes from eight AML patients, and validated hundreds of somatic mutations using deep sequencing; this allowed us to define clonality and clonal evolution patterns precisely at relapse. In addition to discovering novel, recurrently mutated genes (for example, WAC, SMC3, DIS3, DDX41 and DAXX) in AML, we also found two major clonal evolution patterns during AML relapse: (1) the founding clone in the primary tumour gained mutations and evolved into the relapse clone, or (2) a subclone of the founding clone survived initial therapy, gained additional mutations and expanded at relapse. In all cases, chemotherapy failed to eradicate the …
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L Ding, TJ Ley, DE Larson, CA Miller, DC Koboldt… - Nature, 2012