This section shows a general overview of information for the selected study (COSU identifier) or publication (COSP identifier). Studies may have been performed by the Sanger Institute Cancer Genome Project, or imported from the ICGC/TCGA. You can see more information on the help pages.
- Reference
- Genetic alterations activating kinase and cytokine receptor signaling in high-risk acute lymphoblastic leukemia.
- Paper ID
- COSP29664
- Authors
- Affiliation
- Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
- Journal
- Cancer cell 2012;22(2):153-66
ISSN:1878-3686PUBMED:22897847
- Abstract
- Genomic profiling has identified a subtype of high-risk B-progenitor acute lymphoblastic leukemia (B-ALL) with alteration of IKZF1, a gene expression profile similar to BCR-ABL1-positive ALL and poor outcome (Ph-like ALL). The genetic alterations that activate kinase signaling in Ph-like ALL are poorly understood. We performed transcriptome and whole genome sequencing on 15 cases of Ph-like ALL and identified rearrangements involving ABL1, JAK2, PDGFRB, CRLF2, and EPOR, activating mutations of IL7R and FLT3, and deletion of SH2B3, which encodes the JAK2-negative regulator LNK. Importantly, several of these alterations induce transformation that is attenuated with tyrosine kinase inhibitors, suggesting the treatment outcome of these patients may be improved with targeted therapy.
- Paper Status
- Curated
- Genes Analysed
- 68
- Mutated Samples
- 9
- Total No. of Samples
- 107