The genomic landscape of core-binding factor acute myeloid leukemias

ZJ Faber, X Chen, AL Gedman, K Boggs, J Cheng… - Nature …, 2016 - nature.com
ZJ Faber, X Chen, AL Gedman, K Boggs, J Cheng, J Ma, I Radtke, JR Chao, MP Walsh…
Nature genetics, 2016nature.com
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 …
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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