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.

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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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