Routine RNA sequencing of formalin-fixed paraffin-embedded specimens in neuropathology diagnostics identifies diagnostically and therapeutically relevant gene fusions

Papillary glioneuronal tumor (PGNT) exhibits a characteristic methylation profile and fusions involving PRKCA

(2019) Yanghao Hou et al.   ACTA NEUROPATHOLOGICA

DNA methylation-based classification of central nervous system tumours

(2018) David Capper et al.   NATURE

A new GTF2I-BRAF fusion mediating MAPK pathway activation in pilocytic astrocytoma

(2017) Tajana Tešan Tomić et al.   PLoS One

Genetic alterations in uncommon low-grade neuroepithelial tumors: BRAF, FGFR1, and MYB mutations occur at high frequency and align with morphology

(2016) Ibrahim Qaddoumi et al.   ACTA NEUROPATHOLOGICA

The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary

(2016) David N. Louis et al.   ACTA NEUROPATHOLOGICA

New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs

(2016) Dominik Sturm et al.   CELL

SLC44A1 – PRKCA fusion in papillary and rosette-forming glioneuronal tumors

(2016) Masaya Nagaishi et al.   JOURNAL OF CLINICAL NEUROSCIENCE

MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism

(2016) Pratiti Bandopadhayay et al.   NATURE GENETICS

Targeted next-generation sequencing of pediatric neuro-oncology patients improves diagnosis, identifies pathogenic germline mutations, and directs targeted therapy

(2016) Cassie N. Kline et al.   NEURO-ONCOLOGY

Integrated analysis of pediatric glioblastoma reveals a subset of biologically favorable tumors with associated molecular prognostic markers

(2015) Andrey Korshunov et al.   ACTA NEUROPATHOLOGICA

Next-generation sequencing in routine brain tumor diagnostics enables an integrated diagnosis and identifies actionable targets

(2015) Felix Sahm et al.   ACTA NEUROPATHOLOGICA

Targeted next-generation sequencing panel (GlioSeq) provides comprehensive genetic profiling of central nervous system tumors

(2015) Marina N. Nikiforova et al.   NEURO-ONCOLOGY

Papillary glioneuronal tumors: histological and molecular characteristics and diagnostic value of SLC44A1-PRKCA fusion

(2015) Melanie Pages et al.   Acta Neuropathologica Communications

The “Grep” Command But Not FusionMap, FusionFinder or ChimeraScan Captures the CIC-DUX4 Fusion Gene from Whole Transcriptome Sequencing Data on a Small Round Cell Tumor with t(4;19)(q35;q13)

(2014) Ioannis Panagopoulos et al.   PLoS One

Meningeal hemangiopericytoma and solitary fibrous tumors carry the NAB2-STAT6 fusion and can be diagnosed by nuclear expression of STAT6 protein

(2013) Leonille Schweizer et al.   ACTA NEUROPATHOLOGICA

Robust molecular subgrouping and copy-number profiling of medulloblastoma from small amounts of archival tumour material using high-density DNA methylation arrays

(2013) Volker Hovestadt et al.   ACTA NEUROPATHOLOGICA

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

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

TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions

(2013) Daehwan Kim et al.   GENOME BIOLOGY

Identification of a Novel, Recurrent SLC44A1-PRKCA Fusion in Papillary Glioneuronal Tumor

(2012) Julia A. Bridge et al.   BRAIN PATHOLOGY

BRAFAlterations in Primary Glial and Glioneuronal Neoplasms of the Central Nervous System With Identification of 2 Novel KIAA1549

(2011) Alex Lin et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

deFuse: An Algorithm for Gene Fusion Discovery in Tumor RNA-Seq Data

(2011) Andrew McPherson et al.   PLoS Computational Biology