Publications
Whole-genome sequencing showed high frequency of mutations that were predicted to activate the RAS-MAPK pathway in relapse neuroblastoma samples as well as in neuroblastoma cell lines.
The authors analyzed a discovery set of 13 CCSKs for changes in chromosome copy number, mutations, rearrangements, global gene expression and global DNA methylation.The study reported significant hypermethylation of TCF21 and/or decreased TARID expression in the cases of most CCSKs.
Researchers used deep whole-exome sequencing to describe the clonal architecture and evolution of 20 pediatric B-acute lymplobastic leukaemias from diagnosis to relapse.
The study reported that the most common single-nucleotide substitution/deletion mutations in favorable histology Wilms tumors occur within SIX1/2, and microRNA processing genes DGCR8 and DROSHA. SIX and miRNAPG mutations were reported to be associated with RAS activation.
Genomic profiling and analysis of patients with precursor B-cell ALL and those with Ph-like ALL showed that the genomic alterations that characterized Ph-like ALL might be amenable to inhibition with tyrosine kinase inhibitors.
TARGET investigators used whole-exome, genome and transcriptome sequencing to determine the spectrum of somatic mutation in high-risk neuroblastoma.
Sequencing the tyrosine kinome and downstream signaling genes in high-risk pediatric ALL cases showed no somatic mutations aside from JAK mutations and 1 FLT3 mutation.
The study reported that alterations of the lymphoid transcription factor gene IKZF1 (IKAROS) are associated with a high risk of treatment failure in B-ALL and approximately 20% of B-ALL cases have genetic alterations that activate kinase signaling.
Several of the novel alterations induced cancerous phenotypes in cell lines and mouse xenograft models and demonstrated sensitivity to tyrosine kinase inhibitors. Stratifying ALL patients may improve clinical outcomes through the use of therapies targeted to the specific genetic alteration.
In the largest pediatric cancer genome sequencing effort reported to date, TARGET ALL researchers sequenced 120 candidate genes in 187 high-risk childhood B-precursor acute lymphoblastic leukemias (HR B-ALL).
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