The Origin and Evolution of Mutations in Acute Myeloid Leukemia

被引：1244

作者：

Welch, John S. ^{[1
,2
]}

Ley, Timothy J. ^{[1
,2
,3
]}

Link, Daniel C. ^{[1
,2
]}

Miller, Christopher A. ^{[3
]}

Larson, David E. ^{[3
]}

Koboldt, Daniel C. ^{[3
]}

Wartman, Lukas D. ^{[1
]}

Lamprecht, Tamara L. ^{[1
]}

Liu, Fulu ^{[1
]}

Xia, Jun ^{[1
]}

Kandoth, Cyriac ^{[3
]}

Fulton, Robert S. ^{[3
]}

McLellan, Michael D. ^{[3
]}

Dooling, David J. ^{[3
]}

Wallis, John W. ^{[3
]}

Chen, Ken ^{[7
]}

Harris, Christopher C. ^{[3
]}

Schmidt, Heather K. ^{[3
]}

Kalicki-Veizer, Joelle M. ^{[3
]}

Lu, Charles ^{[3
]}

Zhang, Qunyuan ^{[6
]}

Lin, Ling ^{[3
]}

O'Laughlin, Michelle D. ^{[3
]}

McMichael, Joshua F. ^{[3
]}

Delehaunty, Kim D. ^{[3
]}

Fulton, Lucinda A. ^{[3
]}

Magrini, Vincent J. ^{[3
]}

McGrath, Sean D. ^{[3
]}

Demeter, Ryan T. ^{[3
]}

Vickery, Tammi L. ^{[3
]}

Hundal, Jasreet ^{[3
]}

Cook, Lisa L. ^{[3
]}

Swift, Gary W. ^{[3
]}

Reed, Jerry P. ^{[3
]}

Alldredge, Patricia A. ^{[3
]}

Wylie, Todd N. ^{[3
]}

Walker, Jason R. ^{[3
]}

Watson, Mark A. ^{[2
,4
]}

Heath, Sharon E. ^{[1
]}

Shannon, William D. ^{[1
,2
]}

Varghese, Nobish ^{[4
]}

Nagarajan, Rakesh ^{[2
,4
]}

Payton, Jacqueline E. ^{[2
,4
]}

Baty, Jack D. ^{[5
]}

Kulkarni, Shashikant ^{[2
,4
]}

Klco, Jeffery M. ^{[4
]}

Tomasson, Michael H. ^{[1
,2
]}

Westervelt, Peter ^{[1
,2
]}

Walter, Matthew J. ^{[1
,2
]}

Graubert, Timothy A. ^{[1
,2
]}

机构：

[1] Washington Univ, Dept Med, St Louis, MO 63110 USA

[2] Washington Univ, Siteman Canc Ctr, St Louis, MO 63110 USA

[3] Washington Univ, Genome Inst, St Louis, MO 63110 USA

[4] Washington Univ, Dept Pathol & Immunol, St Louis, MO 63110 USA

[5] Washington Univ, Dept Biostat, St Louis, MO 63110 USA

[6] Washington Univ, Dept Genet, St Louis, MO 63110 USA

[7] Univ Texas MD Anderson Canc Ctr, Dept Bioinformat & Computat Biol, Houston, TX 77030 USA

来源：

CELL | 2012年 / 150卷 / 02期

关键词：

INTERNAL TANDEM DUPLICATION; ALPHA CHIMERIC GENE; PML/RAR-ALPHA; PROMYELOCYTIC LEUKEMIA; CLONAL EVOLUTION; RETINOIC ACID; MOLECULAR-GENETICS; SOMATIC MUTATIONS; PROGNOSTIC IMPACT; DNMT3A MUTATIONS;

D O I：

10.1016/j.cell.2012.06.023

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Most mutations in cancer genomes are thought to be acquired after the initiating event, which may cause genomic instability and drive clonal evolution. However, for acute myeloid leukemia (AML), normal karyotypes are common, and genomic instability is unusual. To better understand clonal evolution in AML, we sequenced the genomes of M3-AML samples with a known initiating event (PML-RARA) versus the genomes of normal karyotype M1-AML samples and the exomes of hematopoietic stem/progenitor cells (HSPCs) from healthy people. Collectively, the data suggest that most of the mutations found in AML genomes are actually random events that occurred in HSPCs before they acquired the initiating mutation; the mutational history of that cell is "captured" as the clone expands. In many cases, only one or two additional, cooperating mutations are needed to generate the malignant founding clone. Cells from the founding clone can acquire additional cooperating mutations, yielding subclones that can contribute to disease progression and/or relapse.

引用

页码：264 / 278

页数：15

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