The Emerging Molecular Foundations of Pediatric Brain Tumors

Frequent ATRX, CIC, FUBP1 and IDH1 mutations refine the classification of malignant gliomas

(2015) Yuchen Jiao et al.   Oncotarget

Whole-exome sequencing identifies ATRX mutation as a key molecular determinant in lower-grade glioma

(2015) Kasthuri Kannan et al.   Oncotarget

A sensitive and specific histopathologic prognostic marker for H3F3A K27M mutant pediatric glioblastomas

(2014) Sriram Venneti et al.   ACTA NEUROPATHOLOGICA

Genome Sequencing of SHH Medulloblastoma Predicts Genotype-Related Response to Smoothened Inhibition

(2014) Marcel Kool et al.   CANCER CELL

Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma

(2014) Paul A. Northcott et al.   NATURE

Decoding the regulatory landscape of medulloblastoma using DNA methylation sequencing

(2014) Volker Hovestadt et al.   NATURE

Epigenomic alterations define lethal CIMP-positive ependymomas of infancy

(2014) S. C. Mack et al.   NATURE

C11orf95–RELA fusions drive oncogenic NF-κB signalling in ependymoma

(2014) Matthew Parker et al.   NATURE

The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma

(2014) Gang Wu et al.   NATURE GENETICS

Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations

(2014) Pawel Buczkowicz et al.   NATURE GENETICS

Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma

(2014) Kathryn R Taylor et al.   NATURE GENETICS

Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma

(2014) Adam M Fontebasso et al.   NATURE GENETICS

Dysembryoplastic Neuroepithelial Tumors Share with Pleomorphic Xanthoastrocytomas and Gangliogliomas BRAFV600EMutation and Expression

(2013) Céline Chappé et al.   BRAIN PATHOLOGY

Evaluation of Histone 3 Lysine 27 Trimethylation (H3K27me3) and Enhancer of Zest 2 (EZH2) in Pediatric Glial and Glioneuronal Tumors Shows Decreased H3K27me3 inH3F3AK27M Mutant Glioblastomas

(2013) Sriram Venneti et al.   BRAIN PATHOLOGY

BRAF-Mutated Pleomorphic Xanthoastrocytoma is Associated with Temporal Location, Reticulin Fiber Deposition and CD34 Expression

(2013) Christian Koelsche et al.   BRAIN PATHOLOGY

Subgroup-Specific Prognostic Implications ofTP53Mutation in Medulloblastoma

(2013) Nataliya Zhukova et al.   JOURNAL OF CLINICAL ONCOLOGY

Recurrence patterns across medulloblastoma subgroups: an integrated clinical and molecular analysis

(2013) Vijay Ramaswamy et al.   LANCET ONCOLOGY

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

(2013) David T W Jones et al.   NATURE GENETICS

Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas

(2013)   NATURE GENETICS

Molecular genetic testing and the future of clinical genomics

(2013) Sara Huston Katsanis et al.   NATURE REVIEWS GENETICS

Clinicopathological relevance of BRAF mutations in human cancer

(2013) Sahar Pakneshan et al.   PATHOLOGY

Childhood Brain Tumors

(2013) J. Crawford   PEDIATRICS IN REVIEW

Inhibition of PRC2 Activity by a Gain-of-Function H3 Mutation Found in Pediatric Glioblastoma

(2013) P. W. Lewis et al.   SCIENCE

The chromatin remodeller ATRX: a repeat offender in human disease

(2013) David Clynes et al.   TRENDS IN BIOCHEMICAL SCIENCES

Histone H3.3 Mutations Drive Pediatric Glioblastoma through Upregulation of MYCN

(2013) Lynn Bjerke et al.   Cancer Discovery

The Promise and Challenges of Next-Generation Genome Sequencing for Clinical Care

(2013) Katherine A. Johansen Taber et al.   JAMA Internal Medicine

Immunohistochemistry is highly sensitive and specific for detection of BRAF V600E mutation in pleomorphic xanthoastrocytoma

(2013) Cristiane M Ida et al.   Acta Neuropathologica Communications

Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations

(2012) Xiao-Yang Liu et al.   ACTA NEUROPATHOLOGICA

K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas

(2012) Dong-Anh Khuong-Quang et al.   ACTA NEUROPATHOLOGICA

Molecular subgroups of medulloblastoma: an international meta-analysis of transcriptome, genetic aberrations, and clinical data of WNT, SHH, Group 3, and Group 4 medulloblastomas

(2012) Marcel Kool et al.   ACTA NEUROPATHOLOGICA

Statistical challenges associated with detecting copy number variations with next-generation sequencing

(2012) Shu Mei Teo et al.   BIOINFORMATICS

Hotspot Mutations in H3F3A and IDH1 Define Distinct Epigenetic and Biological Subgroups of Glioblastoma

(2012) Dominik Sturm et al.   CANCER CELL

A Mouse Model of the Most Aggressive Subgroup of Human Medulloblastoma

(2012) Daisuke Kawauchi et al.   CANCER CELL

IDH mutation impairs histone demethylation and results in a block to cell differentiation

(2012) Chao Lu et al.   NATURE

IDH1 mutation is sufficient to establish the glioma hypermethylator phenotype

(2012) Sevin Turcan et al.   NATURE

Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations

(2012) Trevor J. Pugh et al.   NATURE

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

(2012) Jeremy Schwartzentruber et al.   NATURE

Subgroup-specific structural variation across 1,000 medulloblastoma genomes

(2012) Paul A. Northcott et al.   NATURE

Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas

(2012) Gang Wu et al.   NATURE GENETICS

DNA Fragmentation Simulation Method (FSM) and Fragment Size Matching Improve aCGH Performance of FFPE Tissues

(2012) Justin M. Craig et al.   PLoS One

Oncogenic FAM131B–BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma

(2011) Huriye Cin et al.   ACTA NEUROPATHOLOGICA

Assessment of BRAF V600E mutation status by immunohistochemistry with a mutation-specific monoclonal antibody

(2011) David Capper et al.   ACTA NEUROPATHOLOGICA

Pediatric and adult sonic hedgehog medulloblastomas are clinically and molecularly distinct

(2011) Paul A. Northcott et al.   ACTA NEUROPATHOLOGICA

Rapid, reliable, and reproducible molecular sub-grouping of clinical medulloblastoma samples

(2011) Paul A. Northcott et al.   ACTA NEUROPATHOLOGICA

Molecular subgroups of medulloblastoma: the current consensus

(2011) Michael D. Taylor et al.   ACTA NEUROPATHOLOGICA

Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma

(2011) Genevieve Schindler et al.   ACTA NEUROPATHOLOGICA

Delineation of Two Clinically and Molecularly Distinct Subgroups of Posterior Fossa Ependymoma

(2011) Hendrik Witt et al.   CANCER CELL

The double face of the histone variant H3.3

(2011) Emmanuelle Szenker et al.   CELL RESEARCH

BRAFV600E: Implications for Carcinogenesis and Molecular Therapy

(2011) E. R. Cantwell-Dorris et al.   MOLECULAR CANCER THERAPEUTICS

Personalized mice: modelling the molecular heterogeneity of medulloblastoma

(2011) S. L. Markant et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

BRAF V600E Mutations Are Common in Pleomorphic Xanthoastrocytoma: Diagnostic and Therapeutic Implications

(2011) Dora Dias-Santagata et al.   PLoS One

Altered Telomeres in Tumors with ATRX and DAXX Mutations

(2011) C. M. Heaphy et al.   SCIENCE

High-Throughput Detection of Actionable Genomic Alterations in Clinical Tumor Samples by Targeted, Massively Parallel Sequencing

(2011) Nikhil Wagle et al.   Cancer Discovery

MYB upregulation and genetic aberrations in a subset of pediatric low-grade gliomas

(2010) Ruth G. Tatevossian et al.   ACTA NEUROPATHOLOGICA

The Common Feature of Leukemia-Associated IDH1 and IDH2 Mutations Is a Neomorphic Enzyme Activity Converting α-Ketoglutarate to 2-Hydroxyglutarate

(2010) Patrick S. Ward et al.   CANCER CELL

Identification of a CpG Island Methylator Phenotype that Defines a Distinct Subgroup of Glioma

(2010) Houtan Noushmehr et al.   CANCER CELL

Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma

(2010) Ingrid Slade et al.   Familial Cancer

Integrative Genomic Analysis of Medulloblastoma Identifies a Molecular Subgroup That Drives Poor Clinical Outcome

(2010) Yoon-Jae Cho et al.   JOURNAL OF CLINICAL ONCOLOGY

Medulloblastoma Comprises Four Distinct Molecular Variants

(2010) Paul A. Northcott et al.   JOURNAL OF CLINICAL ONCOLOGY

Subtypes of medulloblastoma have distinct developmental origins

(2010) Paul Gibson et al.   NATURE

Cross-species genomics matches driver mutations and cell compartments to model ependymoma

(2010) Robert A. Johnson et al.   NATURE

Daxx is an H3.3-specific histone chaperone and cooperates with ATRX in replication-independent chromatin assembly at telomeres

(2010) P. W. Lewis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Wnt signal transduction pathways

(2010) Yuko Komiya et al.   Organogenesis

Duplication of 7q34 in Pediatric Low-Grade Astrocytomas Detected by High-Density Single-Nucleotide Polymorphism-Based Genotype Arrays Results in a NovelBRAFFusion Gene

(2009) Angela J. Sievert et al.   BRAIN PATHOLOGY

Beta-catenin status in paediatric medulloblastomas: correlation of immunohistochemical expression with mutational status, genetic profiles, and clinical characteristics

(2009) Sarah Fattet et al.   JOURNAL OF PATHOLOGY

Cancer-associated IDH1 mutations produce 2-hydroxyglutarate

(2009) Lenny Dang et al.   NATURE

Smoothened Mutation Confers Resistance to a Hedgehog Pathway Inhibitor in Medulloblastoma

(2009) R. L. Yauch et al.   SCIENCE

Tandem Duplication Producing a Novel OncogenicBRAFFusion Gene Defines the Majority of Pilocytic Astrocytomas

(2008) David T.W. Jones et al.   CANCER RESEARCH

Hedgehog: functions and mechanisms

(2008) M. Varjosalo et al.   GENES & DEVELOPMENT

BRAF gene duplication constitutes a mechanism of MAPK pathway activation in low-grade astrocytomas

(2008) Stefan Pfister et al.   JOURNAL OF CLINICAL INVESTIGATION

Frequent Gains at Chromosome 7q34 Involving BRAF in Pilocytic Astrocytoma

(2008) Eli E. Bar et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

A Portrait of Tissue Phosphoprotein Stability in the Clinical Tissue Procurement Process

(2008) Virginia Espina et al.   MOLECULAR & CELLULAR PROTEOMICS

Direct multiplexed measurement of gene expression with color-coded probe pairs

(2008) Gary K Geiss et al.   NATURE BIOTECHNOLOGY

Integrated Genomics Identifies Five Medulloblastoma Subtypes with Distinct Genetic Profiles, Pathway Signatures and Clinicopathological Features

(2008) Marcel Kool et al.   PLoS One