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DNMT3A Mutations in Acute Myeloid Leukemia

by Shannon, William D , Tomasson, Michael H , Wilson, Richard K , Lichti, Cheryl F , Delehaunty, Kim D , O'Laughlin, Michelle , Conyers, Joshua J , Reed, Jerry P , Alldredge, Patricia A , McLellan, Michael D , Swift, Gary W , Kalicki, Joelle , Mardis, Elaine R , Lamprecht, Tamara , Westervelt, Peter , DiPersio, John F , Link, Daniel C , Fulton, Robert S , Payton, Jacqueline E , Ding, Li , Larson, David E , Heath, Sharon , Varghese, Nobish , Baty, Jack , Watson, Mark A , McGrath, Sean D , Walker, Jason , Welch, John , Wylie, Todd , Lin, Ling , Magrini, Vincent J , Fulton, Lucinda A , Zhang, Qunyuan , Cook, Lisa L , Graubert, Timothy A , Hundal, Jasreet , Walter, Matthew J , Osborne, John R , Nagarajan, Rakesh , Kandoth, Cyriac , Ley, Timothy J , Dooling, David J , McMichael, Joshua F , Townsend, R. Reid , Vickery, Tammi L , Harris, Christopher C , Koboldt, Daniel C , Schmidt, Heather

in Adult / Biological and medical sciences / Cancer / Deoxyribonucleic acid / DNA / DNA (Cytosine-5-)-Methyltransferases - genetics / DNA Methylation / DNA Mutational Analysis - methods / Female / Frameshift Mutation / Gene Expression / General aspects / Genes / Hematologic and hematopoietic diseases / Humans / Karyotyping / Leukemia, Myeloid, Acute - genetics / Leukemia, Myeloid, Acute - mortality / Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis / Male / Medical sciences / Middle Aged / Mutation / Nucleic Acid Amplification Techniques / Prognosis / Proportional Hazards Models / Survival Analysis

2010

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DNMT3A Mutations in Acute Myeloid Leukemia

2010

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2010

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Journal Article

DNMT3A Mutations in Acute Myeloid Leukemia

Shannon, William D,

Tomasson, Michael H,

Wilson, Richard K,

Lichti, Cheryl F,

Delehaunty, Kim D,

O'Laughlin, Michelle,

Conyers, Joshua J,

Reed, Jerry P,

Alldredge, Patricia A,

McLellan, Michael D,

Swift, Gary W,

Kalicki, Joelle,

Mardis, Elaine R,

Lamprecht, Tamara,

Westervelt, Peter,

DiPersio, John F,

Link, Daniel C,

Fulton, Robert S,

Payton, Jacqueline E,

Ding, Li,

Larson, David E,

Heath, Sharon,

Varghese, Nobish,

Baty, Jack,

Watson, Mark A,

McGrath, Sean D,

Walker, Jason,

Welch, John,

Wylie, Todd,

Lin, Ling,

Magrini, Vincent J,

Fulton, Lucinda A,

Zhang, Qunyuan,

Cook, Lisa L,

Graubert, Timothy A,

Hundal, Jasreet,

Walter, Matthew J,

Osborne, John R,

Nagarajan, Rakesh,

Kandoth, Cyriac,

Ley, Timothy J,

Dooling, David J,

McMichael, Joshua F,

Townsend, R. Reid,

Vickery, Tammi L,

Harris, Christopher C,

Koboldt, Daniel C,

Schmidt, Heather

2010

Overview

Whole-genome sequence analysis of cells from a patient with acute myeloid leukemia (AML) revealed a mutation in DNMT3A, which encodes an enzyme that methylates DNA. Subsequent analyses showed that DNMT3A was mutated in 33.7% of patients with AML with an intermediate-risk cytogenetic profile. Whole-genome sequencing is an unbiased approach for discovering somatic variations in cancer genomes. We recently reported the DNA sequence and analysis of the genomes of two patients with acute myeloid leukemia (AML) with a normal karyotype. 1 , 2 We did not find new recurring mutations in the first study but did observe a recurrent mutation in IDH1, encoding isocitrate dehydrogenase 1, in the second study. 2 Subsequent work has confirmed and extended this finding, showing that mutations in IDH1 and related gene IDH2 are highly recurrent in patients with an intermediate-risk cytogenetic profile (20 to 30% frequency) and are associated with a . . .

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Publisher

Massachusetts Medical Society

Subject

Adult

/ Biological and medical sciences

/ Cancer

/ Deoxyribonucleic acid

/ DNA

/ DNA (Cytosine-5-)-Methyltransferases - genetics

/ DNA Methylation