Study
ERG ALTERATIONS DEFINE A NOVEL SUBTYPE OF ACUTE LYMPHOBLASTIC LEUKEMIA
Study ID | Alternative Stable ID | Type |
---|---|---|
EGAS00001000514 | Whole Genome Sequencing |
Study Description
Structural chromosomal alterations are a hallmark of acute lymphoblastic leukemia (ALL) yet many patients lack an identifiable abnormality on conventional cytogenetic analysis. Here, using integrated analysis of genome-wide DNA copy number and gene expression data of 1764 childhood and adult ALL cases, including whole-genome, exome and mRNA-sequencing of 72 cases, we report a novel subtype of B-progenitor ALL (B-ALL) representing 4-13% of B-ALL cases characterized by a distinct gene expression profile, and focal deletions of ERG (ETS related gene) in 56% of cases. These cases are characterized by expression of a ERG transcript that utilizes a novel exon in intron 6 of ERG spliced to the canonical reading frame of ERG exons 7-10, encoding a 27 kDa C-terminal ERG protein that retains the ETS and transactivating domains but lacks the N-terminal pointed and regulatory domains. This protein is a competitive inhibitor of wild-type ERG and is leukemogenic in vivo. ERG-altered ALL cases have a favourable outcome despite the presence of alterations associated with poor prognosis in non-ERG ... (Show More)
Study Datasets 4 datasets.
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 |
---|---|---|---|
EGAD00001001432 |
PCGP Germline Study Whole Genome Sequencing
|
Illumina HiSeq 2000 | 1337 |
EGAD00001001433 |
PCGP Germline Study Whole Exome Sequencing
|
Illumina HiSeq 2000 | 906 |
EGAD00001002676 |
DATA FILES FOR PCGP SJERG (WGS)
|
Illumina HiSeq 2000 | 44 |
EGAD00001002677 |
DATA FILES FOR PCGP SJERG (WXS)
|
Illumina HiSeq 2000 | 42 |
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