Dataset Information
Whole Genome Sequencing of Pediatric Acute Megakaryoblastic Leukemia
Ontology highlight
ABSTRACT: We have performed whole genome sequencing of 4 cases of pediatric acute megakaryoblastic leukemia to identify somatic genetic alterations driving leukemogenesis.
OTHER RELATED OMICS DATASETS IN: PRJNA150691PRJNA155971PRJNA155973
PROVIDER: phs000413.v1.p1 | EGA |
REPOSITORIES: EGA
Publications
An Inv(16)(p13.3q24.3)-encoded CBFA2T3-GLIS2 fusion protein defines an aggressive subtype of pediatric acute megakaryoblastic leukemia.
Cancer cell 20121101 5
To define the mutation spectrum in non-Down syndrome acute megakaryoblastic 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 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 ...[more]
