Study

Genetics and transcriptomics of human acute erythroid leukemia

Study ID Alternative Stable ID Type
EGAS00001004203 Other

Study Description

Acute erythroleukemia (AML-M6, FAB, AEL) is a rare but aggressive human disease with a poorly understood molecular pathogenesis. Previous studies showed that AEL leukemic blasts often have complex karyotypes with alterations of chromosome 5 being the most prevalent, and mutations in known AML-associated genes, but no AEL-specific mutations have yet been functionally validated. Here we report characterization of the genetic and transcriptional landscape in a series of 57 patients diagnosed with AEL. Identified genetic alterations indicate the existence of at least three molecular sub-groups composed of patients carrying 1-TP53 mutations (~1/3 of patients), 2-various combinations of mutations previously found in AML and MDS such as DNMT3A, TET2 or IDH2 (~1/3 of patients), and 3-none of these recurrent alterations.

Study Datasets 2 datasets.

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Dataset ID Description Technology Samples
EGAD00001006075
This dataset contains Whole-exon-sequencing (WES) of human acute erythroid leukemia patient samples.
Illumina HiSeq 2000 22
EGAD00001006076
This dataset contains RNAseq performed on 35 human acute erythroid leukemia patient samples and Xenografts.
Illumina HiSeq 2000 35

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