Genetic landscape of non-Down syndrome acute megkaryoblastic leukemia
To define the mutation spectrum in non-Down syndrome acute megkaryoblastic leukemia (non-DS-AMKL), we performed transcriptome sequencing on diagnostic blasts from 14 pediatric patients and validated our findings in a recurrency/validation cohort consisting of 34 pediatric and 28 adult AMKL leukemia samples. Our analysis identified a cryptic chromosome 16 inversion [inv(16)(p13.3q24.3)] in 27% of pediatric cases, which encodes a CBFA2T3-GLIS2 fusion protein. Expression of CBFA2T3-GLIS2 in Drosophila and murine hematopoietic cells induced bone morphogenic protein (BMP) signaling, and resulted in a marked increase in the self-renewal capacity of hematopoietic progenitors. These data suggest that expression of CBFA2T3-GLIS2 directly contributes to leukemogenesis.
- Type: Whole Genome Sequencing
- Archiver: European Genome-phenome Archive (EGA)
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 |
|---|---|---|---|
| EGAD00001000259 | Illumina HiSeq 2000 | 8 | |
| EGAD00001001432 | Illumina HiSeq 2000 | 1337 | |
| EGAD00001001433 | Illumina HiSeq 2000 | 906 |
| Publications | Citations |
|---|---|
|
The landscape of coding RNA editing events in pediatric cancer.
BMC Cancer 21: 2021 1233 |
10 |
|
Comprehensive analysis of mutational signatures reveals distinct patterns and molecular processes across 27 pediatric cancers.
Nat Cancer 4: 2023 276-289 |
66 |
|
A pathway-informed mutual exclusivity framework to detect genetic interactions in pediatric cancer.
BMC Med Genomics 19: 2025 14 |
0 |