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The Genomic Landscape of Core-Binding Factor Acute Myeloid Leukemias

Pediatric de novo acute myeloid leukemia (AML) is a heterogeneous disease that can be divided into clinically distinct subtypes based on the presence of specific chromosomal abnormalities or gene alterations. One of the best characterized subtypes of AML involves leukemias with alterations of the core-binding factor (CBF)-complex, which comprises the FAB subtypes M2 and M4Eo and associates with a favorable outcome. Patients with the AML M2 subtype harbor a translocation between chromosomes 8 and 21 [t(8;21)] that yields the chimeric fusion gene RUNX1(AML1)-RUNX1T1(ETO), while patients with AML M4Eo express the chimeric fusion gene CBFβ-SMMHC(MYH11) as a result of an inversion/translocation event of chromosome 16 [inv(16)/t(16;16)]. In an effort to define the total complement of genetic changes in CBF-leukemia, we performed paired-end whole genome sequencing (WGS) on diagnostic leukemia blasts and matched germ line samples from 17 pediatric CBF-leukemia patients using the Illumina platform. Somatic alterations, including single nucleotide variations (SNVs) and structural variations (SVs), including insertions, deletions, inversions, and inter- and intra-chromosomal rearrangements, were detected using complementary analysis pipelines (Bambino, CREST and CONSERTING). Recurrent screening of identified mutations will be performed in a cohort of approximately 94 cases of CBF-leukemias.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001000268 Illumina HiSeq 2000 34
EGAD00001001432 Illumina HiSeq 2000 1337
EGAD00001001433 Illumina HiSeq 2000 906
EGAD00001002530 Illumina HiSeq 2000 36
EGAD00001002667 Illumina HiSeq 2000 327
Publications Citations
Assessing telomeric DNA content in pediatric cancers using whole-genome sequencing data.
Genome Biol 13: 2012 R113
The genomic landscape of core-binding factor acute myeloid leukemias.
Nat Genet 48: 2016 1551-1556
CICERO: a versatile method for detecting complex and diverse driver fusions using cancer RNA sequencing data.
Genome Biol 21: 2020 126
The landscape of coding RNA editing events in pediatric cancer.
BMC Cancer 21: 2021 1233
Comprehensive analysis of mutational signatures reveals distinct patterns and molecular processes across 27 pediatric cancers.
Nat Cancer 4: 2023 276-289