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Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma

Neuroblastomas are tumors of peripheral sympathetic neurons and are the most common solid tumor in children. To determine the genetic basis for neuroblastoma we performed whole-genome sequencing (6 cases), exome sequencing (16 cases), genome-wide rearrangement analyses (32 cases), and targeted analyses of specific genomic loci (40 cases) using massively parallel sequencing. On average each tumor had 19 somatic alterations in coding genes (range, 3-70). Among genes not previously known to be involved in neuroblastoma, chromosomal deletions and sequence alterations of chromatin remodeling genes, ARID1A and ARID1B, were identified in 8 of 71 tumors (11%) and were associated with early treatment failure and decreased survival. Using tumor-specific structural alterations, we developed an approach to identify rearranged DNA fragments in sera, providing personalized biomarkers for minimal residual disease detection and monitoring. These results highlight dysregulation of chromatin remodeling in pediatric tumorigenesis and provide new approaches for the management of neuroblastoma patients.Data Provider: Johns Hopkins Sidney Kimmel Comprehensive Cancer Center (SKCCC)

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001000282 Illumina Genome Analyzer IIx Illumina HiSeq 2000 114
Publications Citations
Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma.
Nat Genet 45: 2013 12-17
271
A comprehensive characterization of rare mitochondrial DNA variants in neuroblastoma.
Oncotarget 7: 2016 49246-49258
6
Armadillo repeat containing 12 promotes neuroblastoma progression through interaction with retinoblastoma binding protein 4.
Nat Commun 9: 2018 2829
29
Pancreatic cancer organoids recapitulate disease and allow personalized drug screening.
Proc Natl Acad Sci U S A 116: 2019 26580-26590
194