Study
The application of RNA sequencing for the diagnosis and genomic classification of pediatric acute lymphoblastic leukemia
Study ID | Alternative Stable ID | Type |
---|---|---|
EGAS00001004212 | Other |
Study Description
Acute lymphoblastic leukaemia (ALL) is the most common childhood malignancy, and
implementation of risk-adapted therapy has been instrumental in the dramatic improvements in
clinical outcomes. A key to risk-adapted therapies includes the identification of genomic features of
individual tumors, including chromosome number (for hyper- and hypodiploidy) and gene fusions,
notably ETV6-RUNX1, TCF3-PBX1 and BCR-ABL1 in B-cell ALL (B-ALL). RNA-sequencing
(RNA-seq) of large ALL cohorts has expanded the number of recurrent gene fusions recognized as
drivers in ALL, and identification of these new entities will contribute to refining ALL risk
stratification. We used RNA-seq on 126 ALL patients from our clinical service to test the utility of
including RNA-seq in standard of care diagnostic pipelines to detect gene rearrangements and
IKZF1 deletions. RNA-seq identified 86% of rearrangements detected by standard of care
diagnostics. KMT2A-rearrangements (MLL), whilst usually identified, were the most commonly
missed by RNA-seq as a result of low expression. RNA-seq identified rearrangements ... (Show More)
Study Datasets 1 dataset.
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 |
---|---|---|---|
EGAD00001006335 |
RNA-seq data for ALL patients as described in "The application of RNA sequencing for the diagnosis and genomic classification of pediatric acute lymphoblastic leukemia"
|
133 |
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