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Analysis of Somatic Mutations in Pediatric AML FAB-M7 Subtype by Whole Transcriptome Sequencing
dbGaP
Data Resource:  dbGaP
Point of Contact:  
James R. Downing, MD,  
Project

About This Dataset
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 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.
Core Data Elements
Number of Cases
15
Case Sex
Female (8); Male (7)
Case Age At Diagnosis
0 to 4 years (14); 10 to 14 years (1)
Case Race
Black or African American (2); White (11); Not Reported (2)
Case Ethnicity
Not Reported (15)
Case Disease Diagnosis
Acute Megakaryoblastic Leukemia (15)
Case Tumor Site
Bone Marrow (12); Peripheral Blood (3)
Number of Samples
33
Sample Assay Method
RNA Sequencing (14); Whole Exome Sequencing (15); Whole Genome Sequencing (4)
Additional Data Elements
DBGAP STUDY IDENTIFIER
GEO STUDY IDENTIFIER
Grant Information
P30CA016672
Cancer Center Support (Core) Grant
P30CA021765
Cancer Center Support Grant (CCSG)
Published In
https://doi.org/10.1016/j.ccr.2012.10.007
Charts
Female (8); Male (7)
8Female