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UBTF tandem duplication defines High-risk Pediatric Acute Myeloid Leukemia

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.

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 Illumina HiSeq 2000 173
EGAD00001008413 Illumina HiSeq 2000 158
EGAD00001008446 Illumina HiSeq 2000 10
EGAD00001011294 Illumina HiSeq 2000 307
EGAD00001011295 Illumina HiSeq 2000 260
EGAD00001011296 Illumina HiSeq 2000 211
Publications Citations
Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.
Blood Cancer Discov 3: 2022 194-207
Etiology of oncogenic fusions in 5,190 childhood cancers and its clinical and therapeutic implication.
Nat Commun 14: 2023 1739