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 accessAbstract
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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Self-citationClonal heterogeneity of acute myeloid leukemia treated with the IDH2 inhibitor enasidenib
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Subtype-specific regulatory network rewiring in acute myeloid leukemia
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SOS GEFs in health and disease
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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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