A pilot study of high-throughput, sequence-based mutational profiling of primary human acute myeloid leukemia cell genomes

Timothy J. Ley, Patrick J. Minx, Matthew J. Walter, Rhonda E. Ries, Hui Sun, Michael McLellan, John F. DiPersio, Daniel C. Link, Michael H. Tomasson, Timothy A. Graubert, Howard McLeod, Hanna Khoury, Mark Watson, William Shannon, Kathryn Trinkaus, Sharon Heath, James W. Vardiman, Michael A. Caligiuri, Clara D. Bloomfield, Jeffrey D. MilbrandtElaine R. Mardis, Richard K. Wilson

Research output: Contribution to journalArticlepeer-review

52 Scopus citations

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 ≈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.

Original languageEnglish
Pages (from-to)14275-14280
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Volume100
Issue numberSUPPL. 2
DOIs
StatePublished - Nov 25 2003

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