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https://www.readbyqxmd.com/read/28201752/characteristics-of-h3-k27m-mutant-gliomas-in-adults
#1
David Meyronet, Maud Esteban-Mader, Charlotte Bonnet, Marie-Odile Joly, Emmanuelle Uro-Coste, Alexandra Amiel-Benouaich, Fabien Forest, Cécilia Rousselot-Denis, Fanny Burel-Vandenbos, Véronique Bourg, Jacques Guyotat, Tanguy Fenouil, Anne Jouvet, Jérôme Honnorat, François Ducray
No abstract text is available yet for this article.
February 13, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28183840/imaging-characteristics-of-pediatric-diffuse-midline-gliomas-with-histone-h3-k27m-mutation
#2
M S Aboian, D A Solomon, E Felton, M C Mabray, J E Villanueva-Meyer, S Mueller, S Cha
BACKGROUND AND PURPOSE: The 2016 World Health Organization Classification of Tumors of the Central Nervous System includes "diffuse midline glioma with histone H3 K27M mutation" as a new diagnostic entity. We describe the MR imaging characteristics of this new tumor entity in pediatric patients. MATERIALS AND METHODS: We retrospectively reviewed imaging features of pediatric patients with midline gliomas with or without the histone H3 K27 mutation. We evaluated the imaging features of these tumors on the basis of location, enhancement pattern, and necrosis...
February 9, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28064387/the-role-of-histone-modifications-and-telomere-alterations-in-the-pathogenesis-of-diffuse-gliomas-in-adults-and-children
#3
REVIEW
Julieann Lee, D A Solomon, Tarik Tihan
Genetic profiling is an increasingly useful tool for sub-classification of gliomas in adults and children. Specific gene mutations, structural rearrangements, DNA methylation patterns, and gene expression profiles are now recognized to define molecular subgroups of gliomas that arise in distinct anatomic locations and patient age groups, and also provide a better prediction of clinical outcomes for glioma patients compared to histologic assessment alone. Understanding the role of these distinctive genetic alterations in gliomagenesis is also important for the development of potential targeted therapeutic interventions...
January 7, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28052119/pre-clinical-study-of-panobinostat-in-xenograft-and-genetically-engineered-murine-diffuse-intrinsic-pontine-glioma-models
#4
Tammy Hennika, Guo Hu, Nagore G Olaciregui, Kelly L Barton, Anahid Ehteda, Arjanna Chitranjan, Cecilia Chang, Andrew J Gifford, Maria Tsoli, David S Ziegler, Angel M Carcaboso, Oren J Becher
BACKGROUND: Diffuse intrinsic pontine glioma (DIPG), or high-grade brainstem glioma (BSG), is one of the major causes of brain tumor-related deaths in children. Its prognosis has remained poor despite numerous efforts to improve survival. Panobinostat, a histone deacetylase inhibitor, is a targeted agent that has recently shown pre-clinical efficacy and entered a phase I clinical trial for the treatment of children with recurrent or progressive DIPG. METHODS: A collaborative pre-clinical study was conducted using both a genetic BSG mouse model driven by PDGF-B signaling, p53 loss, and ectopic H3...
2017: PloS One
https://www.readbyqxmd.com/read/27997032/k27m-midline-gliomas-display-malignant-progression-by-imaging-and-histology
#5
Franziska J Vettermann, Julia E Neumann, Bogdana Suchorska, Peter Bartenstein, Armin Giese, Mario M Dorostkar, Nathalie L Albert, Ulrich Schüller
K27M midline gliomas are diffuse gliomas that usually occur in children and young adults and arise in midline structures of the brain, the brain stem and the spinal cord. They are defined by point mutations within the chromatin modifiers H3 and are usually associated with a bad clinical outcome [1,2,3]. As such, they are represented as a new separate entity in the new version of the WHO classification for tumors of the central nervous system. Interestingly, these tumors display a huge histological variability [4] and diagnoses currently range from low grade astrocytoma (WHO-grade II) to glioblastoma (WHO-grade IV)...
December 20, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27984673/co-occurrence-of-histone-h3-k27m-and-braf-v600e-mutations-in-paediatric-midline-grade-i-ganglioglioma
#6
Mélanie Pagès, Kevin Beccaria, Nathalie Boddaert, Raphaël Saffroy, Aurore Besnard, David Castel, Frédéric Fina, Doriane Barets, Emilie Barret, Ludovic Lacroix, Franck Bielle, Felipe Andreiuolo, Arnault Tauziède-Espariat, Dominique Figarella-Branger, Stéphanie Puget, Jacques Grill, Fabrice Chrétien, Pascale Varlet
Ganglioglioma (GG) is a grade I tumor characterized by alterations in the MAPK pathway, including BRAF V600E mutation. Recently, diffuse midline glioma with an H3 K27M mutation was added to the WHO 2016 classification as a new grade IV entity. As co-occurrence of H3 K27M and BRAF V600E mutations has been reported in midline tumors and anaplastic GG, we searched for BRAF V600E and H3 K27M mutations in a series of 54 paediatric midline grade I GG (midline GG) to determine the frequency of double mutations and its relevance for prognosis...
December 16, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27900936/malignant-progression-of-a-histone-h3-3-k27m-mutated-spinal-pilocytic-astrocytoma-in-an-adult
#7
Stefan Reers, David Krug, Walter Stummer, Martin Hasselblatt
No abstract text is available yet for this article.
November 30, 2016: Clinical Neuropathology
https://www.readbyqxmd.com/read/27701736/molecular-pathology-of-paediatric-central-nervous-system-tumours
#8
REVIEW
Jason Ch Chiang, David W Ellison
Advances in our understanding of the biology of paediatric central nervous system (CNS) tumours have encouraged pathologists to use molecular markers alongside histopathological analysis for disease classification or prognostication and treatment stratification. In this article, we review molecular genetic alterations in paediatric CNS tumours, including those in low-grade and high-grade gliomas, ependymomas, and embryonal tumours. Some of these molecular changes with clinicopathological utility have been used for the first time in the most recent edition of the World Health Organization (WHO) classification of CNS tumours to define entities like ependymoma, RELA fusion-positive or diffuse midline glioma, H3 K27M-mutant...
January 2017: Journal of Pathology
https://www.readbyqxmd.com/read/27622066/improving-vaccine-efficacy-against-malignant-glioma
#9
REVIEW
Erik Ladomersky, Matthew Genet, Lijie Zhai, Galina Gritsina, Kristen L Lauing, Rishi R Lulla, Jason Fangusaro, Alicia Lenzen, Priya Kumthekar, Jeffrey J Raizer, David C Binder, C David James, Derek A Wainwright
The effective treatment of adult and pediatric malignant glioma is a significant clinical challenge. In adults, glioblastoma (GBM) accounts for the majority of malignant glioma diagnoses with a median survival of 14.6 mo. In children, malignant glioma accounts for 20% of primary CNS tumors with a median survival of less than 1 y. Here, we discuss vaccine treatment for children diagnosed with malignant glioma, through targeting EphA2, IL-13Rα2 and/or histone H3 K27M, while in adults, treatments with RINTEGA, Prophage Series G-100 and dendritic cells are explored...
August 2016: Oncoimmunology
https://www.readbyqxmd.com/read/27577993/targeted-detection-of-genetic-alterations-reveal-the-prognostic-impact-of-h3k27m-and-mapk-pathway-aberrations-in-paediatric-thalamic-glioma
#10
Scott Ryall, Rahul Krishnatry, Anthony Arnoldo, Pawel Buczkowicz, Matthew Mistry, Robert Siddaway, Cino Ling, Sanja Pajovic, Man Yu, Joshua B Rubin, Juliette Hukin, Paul Steinbok, Ute Bartels, Eric Bouffet, Uri Tabori, Cynthia Hawkins
Paediatric brain tumours arising in the thalamus present significant diagnostic and therapeutic challenges to physicians due to their sensitive midline location. As such, genetic analysis for biomarkers to aid in the diagnosis, prognosis and treatment of these tumours is needed. Here, we identified 64 thalamic gliomas with clinical follow-up and characterized targeted genomic alterations using newly optimized droplet digital and NanoString-based assays. The median age at diagnosis was 9.25 years (range, 0...
2016: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/27573687/prognostic-impact-of-the-2016-who-classification-of-diffuse-gliomas-in-the-french-pola-cohort
#11
Emeline Tabouret, Anh Tuan Nguyen, Caroline Dehais, Catherine Carpentier, François Ducray, Ahmed Idbaih, Karima Mokhtari, Anne Jouvet, Emmanuelle Uro-Coste, Carole Colin, Olivier Chinot, Hugues Loiseau, Elisabeth Moyal, Claude-Alain Maurage, Marc Polivka, Emmanuèle Lechapt-Zalcman, Christine Desenclos, David Meyronet, Jean-Yves Delattre, Dominique Figarella-Branger
The new WHO classification of diffuse gliomas has been refined and now includes the 1p/19q codeletion, IDH1/2 mutation, and histone H3-K27M mutation. Our objective was to assess the prognostic value of the updated 2016 WHO classification in the French POLA cohort. All cases of high-grade oligodendroglial tumors sent for central pathological review and included into the French nationwide POLA cohort were reclassified according to the updated 4th WHO classification. In total, 1041 patients were included, with a median age at diagnosis of 50...
October 2016: Acta Neuropathologica
https://www.readbyqxmd.com/read/27539475/clinical-imaging-histopathological-and-molecular-characterization-of-anaplastic-ganglioglioma
#12
Marc Zanello, Mélanie Pages, Arnault Tauziède-Espariat, Raphael Saffroy, Stéphanie Puget, Ludovic Lacroix, Edouard Dezamis, Bertrand Devaux, Fabrice Chrétien, Felipe Andreiuolo, Christian Sainte-Rose, Michel Zerah, Frédéric Dhermain, Sarah Dumont, Guillaume Louvel, Jean-François Meder, Jacques Grill, Christelle Dufour, Johan Pallud, Pascale Varlet
Anaplastic ganglioglioma (AGG) is a rare and malignant variant of ganglioglioma. According to the World Health Organization classification version 2016, their histopathological grading criteria are still ill-defined. The aim of the present study was to assess the clinical, imaging, histopathological, and molecular characteristics and outcomes of AGGs in a large consecutive and retrospective adult and pediatric case series. Eighteen patients with AGGs (13 adults and 5 children) were identified (14 de novo and 4 secondary) from a cohort of 222 gangliogliomas (GG) (8%) treated at our institution between 2000 and 2015...
October 2016: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/27444975/recent-advances-on-the-molecular-pathology-of-glial-neoplasms-in-children-and-adults
#13
REVIEW
Fausto J Rodriguez, M Adelita Vizcaino, Ming-Tseh Lin
Gliomas represent the most common primary intraparenchymal tumors of the central nervous system in adults and children and are a genetic and phenotypic heterogeneous group. Large multi-institutional studies and The Cancer Genome Atlas have provided firm insights into the basic genetic drivers in gliomas. The main molecular biomarkers routinely applied to evaluate diffuse gliomas include MGMT promoter methylation, EGFR alterations (eg, EGFRvIII), IDH1 or IDH2 mutations, and 1p19q co-deletion. Many of these markers have become standard of care for molecular testing and prerequisites for clinical trial enrollment...
September 2016: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/27392443/pediatric-thalamic-glioma-with-h3f3a-k27m-mutation-which-was-detected-before-and-after-malignant-transformation-a-case-report
#14
Kenichi Ishibashi, Takeshi Inoue, Hiroko Fukushima, Yusuke Watanabe, Yoshiyasu Iwai, Hiroaki Sakamoto, Kai Yamasaki, Jyunichi Hara, Tomoko Shofuda, Daiksuke Kanematsu, Ema Yoshioka, Yonehiro Kanemura
PURPOSE: Histone H3.3 (H3F3A) mutation in the codon for lysine 27 (K27M) has been found as driver mutations in pediatric glioblastoma and has been suggested to play critical roles in the pathogenesis of thalamic gliomas and diffuse intrinsic pontine gliomas. We report a case of thalamic glioma with H3F3A K27M mutation, which was detected in both the primary tumor diagnosed as diffuse astrocytoma obtained during the first surgery and also in the tumor diagnosed as anaplastic astrocytoma obtained at the second surgery...
December 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27311324/atrx-immunostaining-predicts-idh-and-h3f3a-status-in-gliomas
#15
Azadeh Ebrahimi, Marco Skardelly, Irina Bonzheim, Ines Ott, Helmut Mühleisen, Franziska Eckert, Ghazaleh Tabatabai, Jens Schittenhelm
Gliomas are the most frequent intraaxial CNS neoplasms with a heterogeneous molecular background. Recent studies on diffuse gliomas have shown frequent alterations in the genes involved in chromatin remodelling pathways such as α-thalassemia/mental-retardation-syndrome-X-linked gene (ATRX). Yet, the reliability of ATRX in predicting isocitrate dehydrogenase (IDH) and H3 histone, family 3A (H3F3A) mutations in gliomas, is unclear.We analysed the ATRX expression status by immunohistochemistry, in a large series of 1064 gliomas and analysed the results in correlation to IDH, H3F3A and loss of heterozygosity (LOH) 1p/19q status in these tumors...
2016: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/27219822/k27m-mutation-in-h3f3a-in-ganglioglioma-grade-i-with-spontaneous-malignant-transformation-extends-the-histopathological-spectrum-of-the-histone-h3-oncogenic-pathway
#16
Natacha Joyon, Arnault Tauziède-Espariat, Agusti Alentorn, Marine Giry, David Castel, Laurent Capelle, Marc Zanello, Pascale Varlet, Franck Bielle
Here we describe the presence of the mutation p.K27M of H3F3A (H3.3K27M) in two tumors of young patients with classical histopathology of ganglioglioma (grade I WHO 2007) whereas H3.3K27M represents a hallmark of midline High Grade Glioma (HGG). Ganglioglioma grade I is a rare, circumscribed, glioneuronal tumor of the central nervous system (CNS) that occurs most often in young patients, most frequently in the temporal lobe and presents with seizures (1). The neuronal component consists of ganglion cells, abnormally grouped and occasionally binucleated...
May 24, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27157931/the-2016-world-health-organization-classification-of-tumors-of-the-central-nervous-system-a-summary
#17
REVIEW
David N Louis, Arie Perry, Guido Reifenberger, Andreas von Deimling, Dominique Figarella-Branger, Webster K Cavenee, Hiroko Ohgaki, Otmar D Wiestler, Paul Kleihues, David W Ellison
The 2016 World Health Organization Classification of Tumors of the Central Nervous System is both a conceptual and practical advance over its 2007 predecessor. For the first time, the WHO classification of CNS tumors uses molecular parameters in addition to histology to define many tumor entities, thus formulating a concept for how CNS tumor diagnoses should be structured in the molecular era. As such, the 2016 CNS WHO presents major restructuring of the diffuse gliomas, medulloblastomas and other embryonal tumors, and incorporates new entities that are defined by both histology and molecular features, including glioblastoma, IDH-wildtype and glioblastoma, IDH-mutant; diffuse midline glioma, H3 K27M-mutant; RELA fusion-positive ependymoma; medulloblastoma, WNT-activated and medulloblastoma, SHH-activated; and embryonal tumour with multilayered rosettes, C19MC-altered...
June 2016: Acta Neuropathologica
https://www.readbyqxmd.com/read/27135271/no-significant-cytotoxic-effect-of-the-ezh2-inhibitor-tazemetostat-epz-6438-on-pediatric-glioma-cells-with-wildtype-histone-3-or-mutated-histone-3-3
#18
M Wiese, F Schill, D Sturm, S Pfister, E Hulleman, S A Johnsen, C M Kramm
BACKGROUND: Glioblastoma multiforme (GBM) and diffuse intrinsic pontine glioma (DIPG) belong to the most aggressive cancers in children with poor prognosis and limited therapeutic options. Therapeutic targeting of epigenetic proteins may offer new treatment options. Preclinical studies identified Enhancer of Zeste Homolog 2 (EZH2) within polycomb repressor complex 2 (PRC2) as a potential epigenetic anti-tumor target in adult GBM cells but similar inhibition studies in pediatric GBM/DIPG were still missing...
April 2016: Klinische Pädiatrie
https://www.readbyqxmd.com/read/27048880/spatial-and-temporal-homogeneity-of-driver-mutations-in-diffuse-intrinsic-pontine-glioma
#19
Hamid Nikbakht, Eshini Panditharatna, Leonie G Mikael, Rui Li, Tenzin Gayden, Matthew Osmond, Cheng-Ying Ho, Madhuri Kambhampati, Eugene I Hwang, Damien Faury, Alan Siu, Simon Papillon-Cavanagh, Denise Bechet, Keith L Ligon, Benjamin Ellezam, Wendy J Ingram, Caedyn Stinson, Andrew S Moore, Katherine E Warren, Jason Karamchandani, Roger J Packer, Nada Jabado, Jacek Majewski, Javad Nazarian
Diffuse Intrinsic Pontine Gliomas (DIPGs) are deadly paediatric brain tumours where needle biopsies help guide diagnosis and targeted therapies. To address spatial heterogeneity, here we analyse 134 specimens from various neuroanatomical structures of whole autopsy brains from nine DIPG patients. Evolutionary reconstruction indicates histone 3 (H3) K27M--including H3.2K27M--mutations potentially arise first and are invariably associated with specific, high-fidelity obligate partners throughout the tumour and its spread, from diagnosis to end-stage disease, suggesting mutual need for tumorigenesis...
April 6, 2016: Nature Communications
https://www.readbyqxmd.com/read/26975364/distinct-histomorphology-in-molecular-subgroups-of-glioblastomas-in-young-patients
#20
Julia E Neumann, Mario M Dorostkar, Andrey Korshunov, Christian Mawrin, Arend Koch, Armin Giese, Ulrich Schüller
Glioblastomas (GBMs) are malignant brain tumors that can be divided into different molecular subtypes based on genetics, global gene expression, and methylation patterns. Among these subgroups, "IDH" GBMs carry mutations within IDH1 or IDH2 The "K27" and "G34" subgroups are characterized by distinct mutations within Histone 3 (H3). These subtypes can be identified by sequencing methods and are particularly found in younger patients. To determine whether the molecular subtypes correlate with distinct histological features among the diverse histologic patterns of GBM, we performed a blinded assessment of the histology of GBMs of 77 patients ≤30 years old at the time of biopsy...
May 2016: Journal of Neuropathology and Experimental Neurology
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