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The Genomic Complexity of Early T-Cell Progenitor Acute Lymphoblastic Leukemia
dbGaP
Data Resource:  dbGaP
Point of Contact:  
Charles Mullighan, MD,  
Project

About This Dataset
Early T-cell precursor acute lymphoblastic leukemia (ETP ALL) is an aggressive malignancy of unknown genetic basis. We performed whole-genome sequencing of 12 ETP ALL cases and assessed the frequency of the identified somatic mutations in 94 T-cell acute lymphoblastic leukemia cases. ETP ALL was characterized by activating mutations in genes regulating cytokine receptor and RAS signaling, inactivating lesions disrupting hematopoietic development, and histone-modifying genes. We also identified new targets of recurrent mutation including DNM2, ECT2L and RELN. The mutational spectrum is similar to myeloid tumors, and moreover, the global transcriptional profile of ETP ALL was similar to that of normal and myeloid leukemia hematopoietic stem cells. These findings suggest that addition of myeloid-directed therapies might improve the poor outcome of ETP ALL.
Core Data Elements
Number of Cases
106
Case Sex
Female (34); Male (72)
Case Age At Diagnosis
0 to 4 years (22); 5 to 9 years (36); 10 to 14 years (37); 15 to 19 years (10); 20 to 24 years (1)
Case Race
Black or African American (16); White (62); Not Reported (28)
Case Ethnicity
Not Reported (106)
Case Disease Diagnosis
T-Cell Acute Lymphoblastic Leukemia (106)
Case Tumor Site
Bone Marrow (100); Peripheral Blood (6)
Number of Samples
12
Sample Assay Method
Whole Genome Sequencing (12)
Additional Data Elements
DBGAP STUDY IDENTIFIER
GEO STUDY IDENTIFIER
Grant Information
P30CA021765
Cancer Center Support Grant (CCSG)
Published In
https://doi.org/10.1038/nmeth.1628;https://doi.org/10.1038/nature10725
Charts
Male (72); Female (34)
72Male