title: A pilot study of high-throughput, sequence-based mutational profiling of primary human acute myeloid leukemia cell genomes.
abstract: In this pilot study, we used primary human acute myeloid leukemia (AML) cell genomes as templates for exonic PCR amplification, followed by high-throughput resequencing, analyzing approximately 7 million base pairs of DNA from 140 AML samples and 48 controls. We identified six previously described, and seven previously undescribed sequence changes that may be relevant for AML pathogenesis. Because the sequencing templates were generated from primary AML cells, the technique favors the detection of mutations from the most dominant clones within the tumor cell mixture. This strategy represents a viable approach for the detection of potentially relevant, nonrandom mutations in primary human cancer cell genomes.
authors: Department of Medicine, Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO 63110, USA. tley@im.wustl.edu
authors: Timothy J
authors: TJ
authors: Ley
authors: Patrick J
authors: PJ
authors: Minx
authors: Matthew J
authors: MJ
authors: Walter
authors: Rhonda E
authors: RE
authors: Ries
authors: Hui
authors: H
authors: Sun
authors: Michael
authors: M
authors: McLellan
authors: John F
authors: JF
authors: DiPersio
authors: Daniel C
authors: DC
authors: Link
authors: Michael H
authors: MH
authors: Tomasson
authors: Timothy A
authors: TA
authors: Graubert
authors: Howard
authors: H
authors: McLeod
authors: Hanna
authors: H
authors: Khoury
authors: Mark
authors: M
authors: Watson
authors: William
authors: W
authors: Shannon
authors: Kathryn
authors: K
authors: Trinkaus
authors: Sharon
authors: S
authors: Heath
authors: James W
authors: JW
authors: Vardiman
authors: Michael A
authors: MA
authors: Caligiuri
authors: Clara D
authors: CD
authors: Bloomfield
authors: Jeffrey D
authors: JD
authors: Milbrandt
authors: Elaine R
authors: ER
authors: Mardis
authors: Richard K
authors: RK
authors: Wilson
mesh_terms: D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D020869:Gene Expression Profiling / Q000379:methods* / Q000706:statistics & numerical data; D018095:Germ-Line Mutation; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D009154:Mutation; D010865:Pilot Projects; D012680:Sensitivity and Specificity