Authors
Elaine R Mardis, Li Ding, David J Dooling, David E Larson, Michael D McLellan, Ken Chen, Daniel C Koboldt, Robert S Fulton, Kim D Delehaunty, Sean D McGrath, Lucinda A Fulton, Devin P Locke, Vincent J Magrini, Rachel M Abbott, Tammi L Vickery, Jerry S Reed, Jody S Robinson, Todd Wylie, Scott M Smith, Lynn Carmichael, James M Eldred, Christopher C Harris, Jason Walker, Joshua B Peck, Feiyu Du, Adam F Dukes, Gabriel E Sanderson, Anthony M Brummett, Eric Clark, Joshua F McMichael, Rick J Meyer, Jonathan K Schindler, Craig S Pohl, John W Wallis, Xiaoqi Shi, Ling Lin, Heather Schmidt, Yuzhu Tang, Carrie Haipek, Madeline E Wiechert, Jolynda V Ivy, Joelle Kalicki, Glendoria Elliott, Rhonda E Ries, Jacqueline E Payton, Peter Westervelt, Michael H Tomasson, Mark A Watson, Jack Baty, Sharon Heath, William D Shannon, Rakesh Nagarajan, Daniel C Link, Matthew J Walter, Timothy A Graubert, John F DiPersio, Richard K Wilson, Timothy J Ley
Publication date
2009/9/10
Journal
New England Journal of Medicine
Volume
361
Issue
11
Pages
1058-1066
Publisher
Massachusetts Medical Society
Description
Background
The full complement of DNA mutations that are responsible for the pathogenesis of acute myeloid leukemia (AML) is not yet known.
Methods
We used massively parallel DNA sequencing to obtain a very high level of coverage (approximately 98%) of a primary, cytogenetically normal, de novo genome for AML with minimal maturation (AML-M1) and a matched normal skin genome.
Results
We identified 12 acquired (somatic) mutations within the coding sequences of genes and 52 somatic point mutations in conserved or regulatory portions of the genome. All mutations appeared to be heterozygous and present in nearly all cells in the tumor sample. Four of the 64 mutations occurred in at least 1 additional AML sample in 188 samples that were tested. Mutations in NRAS and NPM1 had been identified previously in patients with AML, but two other mutations had not been identified. One of these …
Total citations
Scholar articles
ER Mardis, L Ding, DJ Dooling, DE Larson… - New England Journal of Medicine, 2009