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- Genetic alterations activating kinase and cytokine receptor signaling in high-risk acute lymphoblastic leukemia.
- Paper ID
- Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Cancer cell, 2012;22(2):153-66
PMID: 22897847 (view at PubMed or Europe PMC)
- 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
- Genes Analysed
- Mutated Samples
- Total No. of Samples