Study

UBTF tandem duplication defines High-risk Pediatric Acute Myeloid Leukemia

Study ID Alternative Stable ID Type
EGAS00001005760 Other

Study Description

Genomic profiling of relapsed pediatric AML demonstrated an increase in KMT2A and NUP98 rearrangements when compared to de novo pediatric AML, as well as an increase in WT1 mutations. Notably, we identified recurrent (9% of relapse cohort) exon 13 duplications in UBTF in pediatric AML cases that previously lacked known driver alterations. These UBTF-tandem duplication (TD) pediatric AMLs occur in approximately 4% of all pediatric AMLs and are less common in adult AMLs, are associated with normal karyotype or trisomy 8 cytogenetic abnormalities, co-occur with WT1 and FLT3-ITD, have an expression profile similar to NUP98-NSD1 and NPM1 mutant AMLs and are independently associated with poor outcome.

Study Datasets 3 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
EGAD00001008407
RNAseq files for Klco RPAML paper titled "UBTF tandem duplication defines High-risk Pediatric Acute Myeloid Leukemia"
Illumina HiSeq 2000 173
EGAD00001008413
WGS files for Klco RPAML paper titled "UBTF tandem duplication defines High-risk Pediatric Acute Myeloid Leukemia"
Illumina HiSeq 2000 158
EGAD00001008446
Remaining WGS files for paper titled "UBTF tandem duplication defines High-risk Pediatric Acute Myeloid Leukemia"
Illumina HiSeq 2000 10

Who archives the data?

There are no publications available