keyword
MENU ▼
Read by QxMD icon Read
search

K27M

keyword
https://www.readbyqxmd.com/read/28522693/histone-h3-3k27m-represses-p16-to-accelerate-gliomagenesis-in-a-murine-model-of-dipg
#1
Francisco J Cordero, Zhiqing Huang, Carole Grenier, Xingyao He, Guo Hu, Roger E McLendon, Susan K Murphy, Rintaro Hashizume, Oren J Becher
Diffuse Intrinsic Pontine Glioma (DIPG) is a highly aggressive pediatric brainstem tumor genetically distinguished from adult GBM by the high prevalence of the K27M mutation in the histone H3 variant H3.3 (H3F3A). This mutation reprograms the H3K27me3 epigenetic landscape of DIPG by inhibiting the H3K27-specific histone methyltransferase EZH2. This globally reduces H3K27me2/3, critical repressive marks responsible for cell fate decisions, and also causes focal gain of H3K27me3 throughout the epigenome. To date the tumor-driving effects of H3...
May 18, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28484590/histone-3-3-hotspot-mutations-in-conventional-osteosarcomas-a-comprehensive-clinical-and-molecular-characterization-of-six-h3f3a-mutated-cases
#2
Christian Koelsche, Daniel Schrimpf, Lars Tharun, Eva Roth, Dominik Sturm, David T W Jones, Eva-Kristin Renker, Martin Sill, Annika Baude, Felix Sahm, David Capper, Melanie Bewerunge-Hudler, Wolfgang Hartmann, Andreas E Kulozik, Iver Petersen, Uta Flucke, Hendrik W B Schreuder, Reinhard Büttner, Marc-André Weber, Peter Schirmacher, Christoph Plass, Stefan M Pfister, Andreas von Deimling, Gunhild Mechtersheimer
BACKGROUND: Histone 3.3 (H3.3) hotspot mutations in bone tumors occur in the vast majority of giant cell tumors of bone (GCTBs; 96%), chondroblastomas (95%) and in a few cases of osteosarcomas. However, clinical presentation, histopathological features, and additional molecular characteristics of H3.3 mutant osteosarcomas are largely unknown. METHODS: In this multicentre, retrospective study, a total of 106 conventional high-grade osteosarcomas, across all age groups were re-examined for hotspot mutations in the H3...
2017: Clinical Sarcoma Research
https://www.readbyqxmd.com/read/28447171/prevalence-and-clinicopathological-features-of-h3-3-g34-mutant-high-grade-gliomas-a-retrospective-study-of-411-consecutive-glioma-cases-in-a-single-institution
#3
Koji Yoshimoto, Ryusuke Hatae, Yuhei Sangatsuda, Satoshi O Suzuki, Nobuhiro Hata, Yojiro Akagi, Daisuke Kuga, Murata Hideki, Koji Yamashita, Osamu Togao, Akio Hiwatashi, Toru Iwaki, Masahiro Mizoguchi, Koji Iihara
A recurrent glycine-to-arginine/valine alteration at codon 34 (G34R/V) within H3F3A, a gene that encodes the replication-independent histone variant H3.3, reportedly occurs exclusively in pediatric glioblastomas. However, the clinicopathological and biological significances of this mutation have not been completely elucidated; especially, no such data exist for tumor samples from Japanese patients. We analyzed 411 consecutive glioma cases representing patients of all ages. Our results demonstrated that 14 patients (3...
April 26, 2017: Brain Tumor Pathology
https://www.readbyqxmd.com/read/28416018/detection-of-histone-h3-mutations-in-cerebrospinal-fluid-derived-tumor-dna-from-children-with-diffuse-midline-glioma
#4
Tina Y Huang, Andrea Piunti, Rishi R Lulla, Jin Qi, Craig M Horbinski, Tadanori Tomita, C David James, Ali Shilatifard, Amanda M Saratsis
Diffuse midline gliomas (including diffuse intrinsic pontine glioma, DIPG) are highly morbid glial neoplasms of the thalamus or brainstem that typically arise in young children and are not surgically resectable. These tumors are characterized by a high rate of histone H3 mutation, resulting in replacement of lysine 27 with methionine (K27M) in genes encoding H3 variants H3.3 (H3F3A) and H3.1 (HIST1H3B). Detection of these gain-of-function mutations has clinical utility, as they are associated with distinct tumor biology and clinical outcomes...
April 17, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28401060/therapeutic-targeting-of-histone-modifications-in-adult-and-pediatric-high-grade-glioma
#5
REVIEW
Maria J Williams, Will G B Singleton, Stephen P Lowis, Karim Malik, Kathreena M Kurian
Recent exciting work partly through The Cancer Genome Atlas has implicated epigenetic mechanisms including histone modifications in the development of both pediatric and adult high-grade glioma (HGG). Histone lysine methylation has emerged as an important player in regulating gene expression and chromatin function. Lysine (K) 27 (K27) is a critical residue in all seven histone 3 variants and the subject of posttranslational histone modifications, as it can be both methylated and acetylated. In pediatric HGG, two critical single-point mutations occur in the H3F3A gene encoding the regulatory histone variant H3...
2017: Frontiers in Oncology
https://www.readbyqxmd.com/read/28371920/diffuse-intrinsic-pontine-gliomas-current-management-and-new-biologic-insights-is-there-a-glimmer-of-hope
#6
Kenneth J Cohen, Nada Jabado, Jacques Grill
Diffuse intrinsic pontine glioma (DIPG) has proven to be one of the most challenging of all pediatric cancers. Owing to a historical reticence to obtain tumor tissue for study, and based on an erroneous assumption that the biology of DIPG would mirror that of supratentorial high-grade astrocytomas, innumerable studies have been undertaken-all of which have had a negligible impact on the natural history of this disease. More recently, improvements in neurosurgical techniques have allowed for the safe upfront biopsy of DIPG, which, together with a wider use of autopsy tissue, has led to an evolving understanding of the biology of this tumor...
March 24, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28271343/new-molecular-considerations-for-glioma-idh-atrx-braf-tert-h3-k27m
#7
REVIEW
Michael Karsy, Jian Guan, Adam L Cohen, Randy L Jensen, Howard Colman
PURPOSE OF REVIEW: This review will discuss the role of several key players in glioma classification and biology, namely isocitrate dehydrogenase 1 and 2 (IDH1/2), alpha thalassemia/mental retardation syndrome X-linked (ATRX), B-Raf (BRAF), telomerase reverse transcriptase (TERT), and H3K27M. RECENT FINDINGS: IDH1/2 mutation delineates oligoden-droglioma, astrocytoma, and secondary glioblastoma (GBM) from primary GBM and lower-grade gliomas with biology similar to GBM...
February 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28260349/somatic-structural-variations-in-pediatric-brain-tumors-an-update
#8
Zhengwei Li, Qingzeng Sun, Yingchun Shi
Pediatrics brain tumours are the second most frequent malignancy in children, and the most common cause of cancer-related deaths in both the 0-14-year and the 15-24-year age group. Although, pediatrics high-grade glioma (pHGG) is a histologically similar tumour to that arising in adults, these are distinct biological diseases, differing in copy number profiles and driver genetic alterations. Recent sequencing initiatives have conclusively shown the existence of subgroups of HGG marked by distinct driver mutations, which are significantly enriched in young children (H3F3A K27M), teenagers and young adults (H3F3A G34R/V), and middle- aged adults (IDH1/2)...
March 3, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28248117/-update-on-the-2016-who-classification-of-tumors-of-the-central-nervous-system-part-1-diffusely-infiltrating-gliomas
#9
Marian Švajdler, Boris Rychlý, Josef Zámečník, Peter Švajdler
Revised WHO 2016 classification of tumors of the central nervous system (CNS) incorporates for the first time genetic information in addition to morphology for classification of many tumor entities. One of the most important changes is restructuring the chapter of diffuse gliomas. Based on shared genetic driver mutations, diffusely infiltrating astrocytomas and oligodendrogliomas are now classified together, separately from "other" glial tumors with a more circumscribed growth pattern, different pathogenesis and clinical outcome...
2017: Ceskoslovenská Patologie
https://www.readbyqxmd.com/read/28201752/characteristics-of-h3-k27m-mutant-gliomas-in-adults
#10
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
#11
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...
April 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
#12
REVIEW
Julieann Lee, David 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...
March 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
#13
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
#14
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
#15
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
#16
Stefan Reers, David Krug, Walter Stummer, Martin Hasselblatt
No abstract text is available yet for this article.
March 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/27701736/molecular-pathology-of-paediatric-central-nervous-system-tumours
#17
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
#18
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
#19
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
#20
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
keyword
keyword
85811
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"