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

IDH1 mutation can be present in diffuse astrocytomas and giant cell glioblastomas of young children under 10 years of age

(2016) Sean P. Ferris et al.   ACTA NEUROPATHOLOGICA

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

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

(2016) Dominik Sturm et al.   CELL

Exploiting molecular biology for diagnosis and targeted management of pediatric low-grade gliomas

(2016) Michael A Garcia et al.   Future Oncology

Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency

(2016) Eric Bouffet et al.   JOURNAL OF CLINICAL ONCOLOGY

InactivatingMUTYHgermline mutations in pediatric patients with high-grade midline gliomas

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

Histopathologic review of pineal parenchymal tumors identifies novel morphologic subtypes and prognostic factors for outcome

(2016) David R. Raleigh et al.   NEURO-ONCOLOGY

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

(2015) Felix Sahm et al.   ACTA NEUROPATHOLOGICA

Molecular Biology of Pediatric Brain Tumors and Impact on Novel Therapies

(2015) Lindsey M. Hoffman et al.   Current Neurology and Neuroscience Reports

Next-generation (epi)genetic drivers of childhood brain tumours and the outlook for targeted therapies

(2015) Paul A Northcott et al.   LANCET ONCOLOGY

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

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

PD-1 Blockade in Tumors with Mismatch-Repair Deficiency

(2015) Dung T. Le et al.   NEW ENGLAND JOURNAL OF MEDICINE

Germline Mutations in Predisposition Genes in Pediatric Cancer

(2015) Jinghui Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Medulloblastoma: Toward Biologically Based Management

(2015) Ayman Samkari et al.   Seminars in Pediatric Neurology

Germ-line and somatic DICER1 mutations in pineoblastoma

(2014) Leanne de Kock et al.   ACTA NEUROPATHOLOGICA

High prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis

(2014) N. A. Brown et al.   BLOOD

Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis

(2014) R. Chakraborty et al.   BLOOD

The landscape of kinase fusions in cancer

(2014) Nicolas Stransky et al.   Nature Communications

The landscape of somatic mutations in epigenetic regulators across 1,000 paediatric cancer genomes

(2014) Robert Huether et al.   Nature Communications

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

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

Medulloblastoma Comprises Four Distinct Molecular Variants

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