Recurring Mutations Found by Sequencing an Acute Myeloid Leukemia Genome

A comparison of the genomic sequence of a tumor sample from a patient with acute myeloid leukemia (AML) and that of a normal skin sample from the same patient revealed an estimated 750 somatic mutations, of which 12 were in the coding sequences of genes and 52 were in conserved regions or regions wi...

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Published in:	The New England journal of medicine Vol. 361; no. 11; pp. 1058 - 1066
Main Authors:	Mardis, Elaine R, Ding, Li, Dooling, David J, Larson, David E, McLellan, Michael D, Chen, Ken, Koboldt, Daniel C, Fulton, Robert S, Fulton, Lucinda A, Delehaunty, Kim D, McGrath, Sean D, Locke, Devin P, Magrini, Vincent J, Abbott, Rachel M, Vickery, Tammi L, Reed, Jerry S, Robinson, Jody S, Wylie, Todd, Smith, Scott M, Carmichael, Lynn, Eldred, James M, Harris, Christopher C, Walker, Jason, Peck, Joshua B, Du, Feiyu, Dukes, Adam F, Sanderson, Gabriel E, Brummett, Anthony M, Clark, Eric, McMichael, Joshua F, Meyer, Rick J, Schindler, Jonathan K, Pohl, Craig S, Wallis, John W, Shi, Xiaoqi, Lin, Ling, Schmidt, Heather, Tang, Yuzhu, Haipek, Carrie, Wiechert, Madeline E, Ivy, Jolynda V, Kalicki, Joelle, Elliott, Glendoria, Ries, Rhonda E, Payton, Jacqueline E, Westervelt, Peter, Tomasson, Michael H, Watson, Mark A, Baty, Jack, Heath, Sharon, Shannon, William D, Nagarajan, Rakesh, Link, Daniel C, Walter, Matthew J, Graubert, Timothy A, DiPersio, John F, Wilson, Richard K, Ley, Timothy J
Format:	Journal Article
Language:	English
Published:	Waltham, MA Massachusetts Medical Society 10-09-2009
Subjects:	Adult Biological and medical sciences Bone marrow Breast cancer DNA Mutational Analysis Female Gene Frequency General aspects Genes Genome, Human Genomes Hematologic and hematopoietic diseases Humans Isocitrate Dehydrogenase - genetics Leukemia Leukemia, Myeloid, Acute - genetics Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis Male Medical sciences Middle Aged Mutation Patients Point Mutation Sequence Analysis, DNA - methods Medicine Acute myelogenous leukemia Nucleotide sequence Genetics Malignant hemopathy Mutation Genome Sequencing Cancer
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Summary:	A comparison of the genomic sequence of a tumor sample from a patient with acute myeloid leukemia (AML) and that of a normal skin sample from the same patient revealed an estimated 750 somatic mutations, of which 12 were in the coding sequences of genes and 52 were in conserved regions or regions with regulatory potential. Four mutations were found to be recurrent in AML, including mutations in NRAS, NPM1, IDH1, and a conserved region on chromosome 10. A comparison of the genomic sequence of a tumor sample from a patient with acute myeloid leukemia (AML) and that of a normal skin sample from the same patient revealed an estimated 750 somatic mutations. Four mutations were found to be recurrent in AML. Acute myeloid leukemia (AML) is a clonal hematopoietic disease caused by both inherited and acquired genetic alterations. 1 – 3 Current AML classification and prognostic systems incorporate genetic information but are limited to known abnormalities that have previously been identified with the use of cytogenetics, array comparative genomic hybridization (CGH), gene-expression profiling, and the resequencing of candidate genes (see the Glossary). The karyotyping of AML cells remains the most powerful predictor of the outcome in patients with AML and is routinely used by clinicians. 4 , 5 As an adjunct to cytogenetic studies, small subcytogenetic amplifications and deletions can be identified with the use . . .
Bibliography:	ObjectType-Case Study-3 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-2
ISSN:	0028-4793 1533-4406
DOI:	10.1056/NEJMoa0903840