An integrative model of pathway convergence in genetically heterogeneous blast crisis chronic myeloid leukemia (CML)

Study ID Alternative Stable ID Type
EGAS00001001751 Other

Study Description

Targeted therapies against the BCR-ABL1 kinase have revolutionized treatment of chronic phase (CP) chronic myeloid leukemia (CML). In contrast, management of blast crisis (BC) CML remains challenging because BC cells acquire complex molecular alterations that confer stemness features to progenitor populations and resistance to BCR-ABL1 tyrosine kinase inhibitors. Comprehensive models of BC transformation have proved elusive because of the rarity and genetic heterogeneity of BC, but are important for developing biomarkers predicting BC progression and effective therapies. To better understand BC, we performed an integrated multiomics analysis of 74 CP and BC samples using whole-genome and exome sequencing, transcriptome and methylome profiling, and chromatin immunoprecipitation followed by high-throughput sequencing. Employing pathway-based analysis, we found the BC genome was significantly enriched for mutations affecting components of the polycomb repressive complex (PRC) pathway. While transcriptomically, BC progenitors were enriched and depleted for PRC1- and PRC2-related gene ... (Show More)

Study Datasets 8 datasets.

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Dataset ID Description Technology Samples
dataset CML WGS VCF
dataset CML WES VCF
dataset CML WGS pairend fastq
Illumina HiSeq 2000 29
dataset CML WGS pairend bam
HiSeq X Ten,Illumina HiSeq 2000 33
dataset CML WES pairend fastq
Illumina HiSeq 2000 24
dataset CML WES pairend bam
Illumina HiSeq 2000 24
BMI1 ChIP-seq on human K562
Illumina HiSeq 2500 3
BMI1 ChIP-seq on human K562
Illumina HiSeq 2500 3

Who archives the data?

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