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The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.

The genomic landscape of core-binding factor acute myeloid leukemias

Open access
Faber, Zachary J, Chen, Xiang, Gedman, Amanda Larson, Boggs, Kristy, Cheng, Jinjun, Ma, Jing, Radtke, Ina, Chao, Jyh-Rong, Walsh, Michael P, Song, Guangchun, Andersson, Anna K, Dang, Jinjun, Dong, Li, Liu, Yu, Huether, Robert, Cai, Zhongling, Mulder, Heather, Wu, Gang, Edmonson, Michael, Rusch, Michael, Qu, Chunxu, Li, Yongjin, Vadodaria, Bhavin, Wang, Jianmin, Hedlund, Erin, Cao, Xueyuan, Yergeau, Donald, Nakitandwe, Joy, Pounds, Stanley B, Shurtleff, Sheila, Fulton, Robert S, Fulton, Lucinda L, Easton, John, Parganas, Evan, Pui, Ching-Hon, Rubnitz, Jeffrey E, Ding, Li, Mardis, Elaine R, Wilson, Richard K, Gruber, Tanja A, Mullighan, Charles G, Schlenk, Richard F, Paschka, Peter, Döhner, Konstanze, Döhner, Hartmut, Bullinger, Lars, Zhang, Jinghui, Klco, Jeffery M, Downing, James R·2016·Nature Genetics

Abstract

Acute myeloid leukemia (AML) comprises a heterogeneous group of leukemias frequently defined by recurrent cytogenetic abnormalities, including rearrangements involving the core-binding factor (CBF) transcriptional complex. To better understand the genomic landscape of CBF-AMLs, we analyzed both pediatric (n = 87) and adult (n = 78) samples, including cases with RUNX1-RUNX1T1 (n = 85) or CBFB-MYH11 (n = 80) rearrangements, by whole-genome or whole-exome sequencing. In addition to known mutations in the Ras pathway, we identified recurrent stabilizing mutations in CCND2, suggesting a previously unappreciated cooperating pathway in CBF-AML. Outside of signaling alterations, RUNX1-RUNX1T1 and CBFB-MYH11 AMLs demonstrated remarkably different spectra of cooperating mutations, as RUNX1-RUNX1T1 cases harbored recurrent mutations in DHX15 and ZBTB7A, as well as an enrichment of mutations in epigenetic regulators, including ASXL2 and the cohesin complex. This detailed analysis provides insights into the pathogenesis and development of CBF-AML, while highlighting dramatic differences in the landscapes of cooperating mutations for these related AML subtypes.

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Metadata

Authors
Faber, Z. J., Chen, X., Gedman, A. L., Boggs, K., Cheng, J., Ma, J., Radtke, I., Chao, J.-R., Walsh, M. P., Song, G., Andersson, A. K., Dang, J., Dong, L., Liu, Y., Huether, R., Cai, Z., Mulder, H., Wu, G., Edmonson, M., Rusch, M., Qu, C., Li, Y., Vadodaria, B., Wang, J., Hedlund, E., Cao, X., Yergeau, D., Nakitandwe, J., Pounds, S. B., Shurtleff, S., Fulton, R. S., Fulton, L. L., Easton, J., Parganas, E., Pui, C.-H., Rubnitz, J. E., Ding, L., Mardis, E. R., Wilson, R. K., Gruber, T. A., Mullighan, C. G., Schlenk, R. F., Paschka, P., Döhner, K., Döhner, H., Bullinger, L., Zhang, J., Klco, J. M., & Downing, J. R.
Venue
Nature Genetics
Published
2016-10-31
Volume
48
Issue
12
Pages
1551-1556
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
OpenAlex
W2546297708
Cited by
269
References
10
FWCI
19.75
Type
journal article
Language
en
Open access
green

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CoChat. (2026). Citation check: The genomic landscape of core-binding factor acute myeloid leukemias. https://app.cochat.ai/papers/10.1038/ng.3709
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Faber, Z. J., Chen, X., Gedman, A. L., Boggs, K., Cheng, J., Ma, J., Radtke, I., Chao, J.-R., Walsh, M. P., Song, G., Andersson, A. K., Dang, J., Dong, L., Liu, Y., Huether, R., Cai, Z., Mulder, H., Wu, G., Edmonson, M., . . . Downing, J. R. (2016). The genomic landscape of core-binding factor acute myeloid leukemias. Nature Genetics. https://doi.org/10.1038/ng.3709

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