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.
- Type: Other
- Archiver: EGA European Genome-Phenome Archive
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 |
19 |
|
Etiology of oncogenic fusions in 5,190 childhood cancers and its clinical and therapeutic implication.
Nat Commun 14: 2023 1739 |
2 |