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Open AccessAuthor Correction: Cancer-associated DDX3X mutations drive stress granule assembly and impair global translation
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Open AccessA new genomic framework to categorize pediatric acute myeloid leukemia
Recent studies on pediatric acute myeloid leukemia (pAML) have revealed pediatric-specific driver alterations, many of which are underrepresented in the current classification schemas. To comprehensively defin...
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Open AccessNetBID2 provides comprehensive hidden driver analysis
Many signaling and other genes known as “hidden” drivers may not be genetically or epigenetically altered or differentially expressed at the mRNA or protein levels, but, rather, drive a phenotype such as tumor...
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The genomic landscape of pediatric acute lymphoblastic leukemia
Acute lymphoblastic leukemia (ALL) is the most common childhood cancer. Here, using whole-genome, exome and transcriptome sequencing of 2,754 childhood patients with ALL, we find that, despite a generally low ...
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Open AccessThe landscape of coding RNA editing events in pediatric cancer
RNA editing leads to post-transcriptional variation in protein sequences and has important biological implications. We sought to elucidate the landscape of RNA editing events across pediatric cancers.
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Open AccessPan-neuroblastoma analysis reveals age- and signature-associated driver alterations
Neuroblastoma is a pediatric malignancy with heterogeneous clinical outcomes. To better understand neuroblastoma pathogenesis, here we analyze whole-genome, whole-exome and/or transcriptome data from 702 neuro...
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Germline Elongator mutations in Sonic Hedgehog medulloblastoma
Cancer genomics has revealed many genes and core molecular processes that contribute to human malignancies, but the genetic and molecular bases of many rare cancers remains unclear. Genetic predisposition acco...
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Genomic subty** and therapeutic targeting of acute erythroleukemia
Acute erythroid leukemia (AEL) is a high-risk leukemia of poorly understood genetic basis, with controversy regarding diagnosis in the spectrum of myelodysplasia and myeloid leukemia. We compared genomic featu...
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Open AccessStructure and evolution of double minutes in diagnosis and relapse brain tumors
Double minute chromosomes are extrachromosomal circular DNA fragments frequently found in brain tumors. To understand their evolution, we characterized the double minutes in paired diagnosis and relapse tumors...
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Open AccessClinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome
To evaluate the potential of an integrated clinical test to detect diverse classes of somatic and germline mutations relevant to pediatric oncology, we performed three-platform whole-genome (WGS), whole exome ...
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Living Reference Work Entry In depth
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The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia
Charles Mullighan, Stephen Hunger, **ghui Zhang and colleagues report a genomic analysis of 264 pediatric and young adult T-lineage acute lymphoblastic leukemia (T-ALL) samples. They identify 106 candidate dr...
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Pediatric non–Down syndrome acute megakaryoblastic leukemia is characterized by distinct genomic subsets with varying outcomes
Franco Locatelli, Dirk Reinhardt, Marry van den Heuvel-Eibrink, C Michel Zwaan, Maarten Fornerod, Tanja Gruber and colleagues report whole-exome and transcriptome sequencing of acute megakaryoblastic leukemia ...
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The genomic landscape of core-binding factor acute myeloid leukemias
Lars Bullinger, **ghui Zhang, Jeffery Klco, James Downing and colleagues report a detailed genomic analysis of pediatric and adult core-binding factor acute myeloid leukemias (CBF-AMLs). They identify recurre...
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Deregulation of DUX4 and ERG in acute lymphoblastic leukemia
Charles Mullighan, **ghui Zhang and colleagues characterize a subtype of B-progenitor acute lymphoblastic leukemia with deregulated DUX4 and ERG. They find that aberrant DUX4 activation results in loss of ERG fu...
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Genetic alterations in uncommon low-grade neuroepithelial tumors: BRAF, FGFR1, and MYB mutations occur at high frequency and align with morphology
Low-grade neuroepithelial tumors (LGNTs) are diverse CNS tumors presenting in children and young adults, often with a history of epilepsy. While the genetic profiles of common LGNTs, such as the pilocytic astr...
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Open AccessCancer-associated DDX3X mutations drive stress granule assembly and impair global translation
DDX3X is a DEAD-box RNA helicase that has been implicated in multiple aspects of RNA metabolism including translation initiation and the assembly of stress granules (SGs). Recent genomic studies have reported ...
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CONSERTING: integrating copy-number analysis with structural-variation detection
CONSERTING detects somatic copy-number alterations from whole-genome sequence data with high accuracy and sensitivity and identifies breakpoints even in heterogeneous or impure tumors.
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The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias
Anna Andersson, Tanja Gruber, James Downing and colleagues report a genomic analysis of infant acute lymphoblastic leukemias with MLL rearrangements. They identify recurrent activating mutations in tyrosine kinas...
