Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing
作者： Li Ding , Timothy J. Ley , David E. Larson , Christopher A. Miller , Daniel C. Koboldt
DOI: 10.1038/NATURE10738
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摘要: Most patients with acute myeloid leukaemia (AML) die from progressive disease after relapse, which is associated clonal evolution at the cytogenetic level. To determine mutational spectrum we sequenced primary tumour and relapse genomes eight AML patients, validated hundreds of somatic mutations using deep sequencing; this allowed us to define clonality patterns precisely relapse. In addition discovering novel, recurrently mutated genes (for example, WAC, SMC3, DIS3, DDX41 DAXX) in AML, also found two major during relapse: (1) founding clone gained evolved into clone, or (2) a subclone survived initial therapy, additional expanded all cases, chemotherapy failed eradicate clone. The comparison relapse-specific versus cases revealed an increase transversions, probably due DNA damage caused by cytotoxic chemotherapy. These data demonstrate that new evolution, shaped, part, receive establish maintain remissions.
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