The mutational oncoprint of recurrent cytogenetic abnormalities in adult patients with de novo acute myeloid leukemia.
Recurrent chromosomal abnormalities and gene mutations detected at the time of diagnosis of acute myeloid leukemia (AML) are associated with particular disease features, treatment response and survival of AML patients, and are used to denote specific disease entities in the World Health Organization classification of myeloid neoplasms and acute leukemia. However, large studies that integrate cytogenetic and comprehensive mutational information are scarce. We created a comprehensive oncoprint of mutations associated with recurrent cytogenetic findings by combining the information on mutational patterns of 80 cancer- and leukemia-associated genes with cytogenetic findings in 1603 adult patients with de novo AML. We show unique differences in the mutational profiles among major cytogenetic subsets, identify novel associations between recurrent cytogenetic abnormalities and both specific gene mutations and gene functional groups, and reveal differences in cytogenetic and mutational features between patients younger than 60 years and those aged 60 years or older. The identified associations between cytogenetic and molecular genetic data may help guide mutation testing in AML, and result in more focused application of targeted therapy in patients with de novo AML.
The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.
A-K
AK
Eisfeld
The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.
K
K
Mrózek
The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.|Alliance Statistics and Data Center, Mayo Clinic, Rochester, MN, USA.
J
J
Kohlschmidt
The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.|Alliance Statistics and Data Center, Mayo Clinic, Rochester, MN, USA.
D
D
Nicolet
Division of Hematology, Department of Internal Medicine, The Ohio State University, Comprehensive Cancer Center, Columbus, OH, USA.
S
S
Orwick
The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.
C J
CJ
Walker
Division of Hematology, Department of Internal Medicine, The Ohio State University, Comprehensive Cancer Center, Columbus, OH, USA.
K W
KW
Kroll
Division of Hematology, Department of Internal Medicine, The Ohio State University, Comprehensive Cancer Center, Columbus, OH, USA.
J S
JS
Blachly
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
A J
AJ
Carroll
Monter Cancer Center, Hofstra North Shore-Long Island Jewish School of Medicine, Lake Success, NY, USA.
J E
JE
Kolitz
Comprehensive Cancer Center of Wake Forest University, Winston-Salem, NC, USA.
B L
BL
Powell
Department of Medicine, Roswell Park Cancer Institute, Buffalo, NY, USA.
E S
ES
Wang
Department of Medical Oncology, Dana-Farber/Partners CancerCare, Boston, MA, USA.
R M
RM
Stone
The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.
A
A
de la Chapelle
Division of Hematology, Department of Internal Medicine, The Ohio State University, Comprehensive Cancer Center, Columbus, OH, USA.
J C
JC
Byrd
The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.
C D
CD
Bloomfield
D000328:Adult; D000367:Age Factors; D000368:Aged; D002869:Chromosome Aberrations; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D063990:Gene Ontology; D052138:Genes, Neoplasm; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation
D004273:DNA, Neoplasm