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.

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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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