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https://www.readbyqxmd.com/read/28726821/the-whole-genome-landscape-of-medulloblastoma-subtypes
#1
Paul A Northcott, Ivo Buchhalter, A Sorana Morrissy, Volker Hovestadt, Joachim Weischenfeldt, Tobias Ehrenberger, Susanne Gröbner, Maia Segura-Wang, Thomas Zichner, Vasilisa A Rudneva, Hans-Jörg Warnatz, Nikos Sidiropoulos, Aaron H Phillips, Steven Schumacher, Kortine Kleinheinz, Sebastian M Waszak, Serap Erkek, David T W Jones, Barbara C Worst, Marcel Kool, Marc Zapatka, Natalie Jäger, Lukas Chavez, Barbara Hutter, Matthias Bieg, Nagarajan Paramasivam, Michael Heinold, Zuguang Gu, Naveed Ishaque, Christina Jäger-Schmidt, Charles D Imbusch, Alke Jugold, Daniel Hübschmann, Thomas Risch, Vyacheslav Amstislavskiy, Francisco German Rodriguez Gonzalez, Ursula D Weber, Stephan Wolf, Giles W Robinson, Xin Zhou, Gang Wu, David Finkelstein, Yanling Liu, Florence M G Cavalli, Betty Luu, Vijay Ramaswamy, Xiaochong Wu, Jan Koster, Marina Ryzhova, Yoon-Jae Cho, Scott L Pomeroy, Christel Herold-Mende, Martin Schuhmann, Martin Ebinger, Linda M Liau, Jaume Mora, Roger E McLendon, Nada Jabado, Toshihiro Kumabe, Eric Chuah, Yussanne Ma, Richard A Moore, Andrew J Mungall, Karen L Mungall, Nina Thiessen, Kane Tse, Tina Wong, Steven J M Jones, Olaf Witt, Till Milde, Andreas Von Deimling, David Capper, Andrey Korshunov, Marie-Laure Yaspo, Richard Kriwacki, Amar Gajjar, Jinghui Zhang, Rameen Beroukhim, Ernest Fraenkel, Jan O Korbel, Benedikt Brors, Matthias Schlesner, Roland Eils, Marco A Marra, Stefan M Pfister, Michael D Taylor, Peter Lichter
Current therapies for medulloblastoma, a highly malignant childhood brain tumour, impose debilitating effects on the developing child, and highlight the need for molecularly targeted treatments with reduced toxicity. Previous studies have been unable to identify the full spectrum of driver genes and molecular processes that operate in medulloblastoma subgroups. Here we analyse the somatic landscape across 491 sequenced medulloblastoma samples and the molecular heterogeneity among 1,256 epigenetically analysed cases, and identify subgroup-specific driver alterations that include previously undiscovered actionable targets...
July 19, 2017: Nature
https://www.readbyqxmd.com/read/28720841/novel-immunohistochemistry-based-signatures-to-predict-metastatic-site-of-triple-negative-breast-cancers
#2
Sergey Klimov, Padmashree Cg Rida, Mohammed A Aleskandarany, Andrew R Green, Ian O Ellis, Emiel Am Janssen, Emad A Rakha, Ritu Aneja
BACKGROUND: Although distant metastasis (DM) in breast cancer (BC) is the most lethal form of recurrence and the most common underlying cause of cancer related deaths, the outcome following the development of DM is related to the site of metastasis. Triple negative BC (TNBC) is an aggressive form of BC characterised by early recurrences and high mortality. Athough multiple variables can be used to predict the risk of metastasis, few markers can predict the specific site of metastasis...
July 18, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28717417/analysis-of-extracellular-rna-in-cerebrospinal-fluid
#3
Julie A Saugstad, Theresa A Lusardi, Kendall R Van Keuren-Jensen, Jay I Phillips, Babett Lind, Christina A Harrington, Trevor J McFarland, Amanda L Courtright, Rebecca A Reiman, Ashish S Yeri, M Yashar S Kalani, P David Adelson, Jorge Arango, John P Nolan, Erika Duggan, Karen Messer, Johnny C Akers, Douglas R Galasko, Joseph F Quinn, Bob S Carter, Fred H Hochberg
We examined the extracellular vesicle (EV) and RNA composition of pooled normal cerebrospinal fluid (CSF) samples and CSF from five major neurological disorders: Alzheimer's disease (AD), Parkinson's disease (PD), low-grade glioma (LGG), glioblastoma multiforme (GBM), and subarachnoid haemorrhage (SAH), representing neurodegenerative disease, cancer, and severe acute brain injury. We evaluated: (I) size and quantity of EVs by nanoparticle tracking analysis (NTA) and vesicle flow cytometry (VFC), (II) RNA yield and purity using four RNA isolation kits, (III) replication of RNA yields within and between laboratories, and (IV) composition of total and EV RNAs by reverse transcription-quantitative polymerase chain reaction (RT-qPCR) and RNA sequencing (RNASeq)...
2017: Journal of Extracellular Vesicles
https://www.readbyqxmd.com/read/28714009/microrna-202-inhibits-cell-proliferation-migration-and-invasion-of-glioma-by-directly-targeting-metadherin
#4
Jinsheng Yang, Bo Fan, Yachao Zhao, Junchao Fang
Glioma is the most common and aggressive type of primary malignant brain tumour. Increasing evidence has revealed that microRNAs play important roles in multiple biological processes related to glioma occurrence, development, diagnosis, treatment and prognosis. MicroRNA-202 (miR-202) has been studied in several types of human cancer, whereas the biological roles of miR-202 in glioma remain unknown. The present study, aimed to investigate the expression, clinical significance and biological roles of miR-202 in glioma, as well as its underlying molecular mechanism...
July 13, 2017: Oncology Reports
https://www.readbyqxmd.com/read/28713035/intracerebral-gene-therapy-in-children-with-mucopolysaccharidosis-type-iiib-syndrome-an-uncontrolled-phase-1-2-clinical-trial
#5
Marc Tardieu, Michel Zérah, Marie-Lise Gougeon, Jérome Ausseil, Stéphanie de Bournonville, Béatrice Husson, Dimitrios Zafeiriou, Giancarlo Parenti, Philippe Bourget, Béatrice Poirier, Valérie Furlan, Cécile Artaud, Thomas Baugnon, Thomas Roujeau, Ronald G Crystal, Christian Meyer, Kumaran Deiva, Jean-Michel Heard
BACKGROUND: Mucopolysaccharidosis type IIIB syndrome (also known as Sanfilippo type B syndrome) is a lysosomal storage disease resulting in progressive deterioration of cognitive acquisition after age 2-4 years. No treatment is available for the neurological manifestations of the disease. We sought to assess the safety and efficacy of a novel intracerebral gene therapy. METHODS: Local regulatory authorities in France allowed inclusion of up to four children in this phase 1/2 study...
July 13, 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28712340/deep-sequencing-reveals-the-mitochondrial-dna-variation-landscapes-of-breast-to-brain-metastasis-blood-samples
#6
Rhiannon E McGeehan, Lewis A Cockram, D Timothy J Littlewood, Kathleen Keatley, Diana M Eccles, Qian An
Breast-to-brain metastasis (BBM) often represents a terminal event, due to the inability of many systemic treatments to cross the blood-brain barrier (BBB), rendering the brain a sanctuary site for tumour cells. Identifying genetic variations that can predict the patients who will develop BBM would allow targeting of adjuvant treatments to reduce risk while disease bulk is minimal. Germ-line genetic variations may contribute to whether a BBM forms by influencing the primary tumour subtype that presents, or by influencing the host response to the tumour or treatment regimen, or by facilitating transition of tumour cells across the BBB and establish a viable brain metastasis...
July 15, 2017: Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis
https://www.readbyqxmd.com/read/28706234/investigation-of-brain-tissue-infiltration-by-medulloblastoma-cells-in-an-ex-vivo-model
#7
Anuja Neve, Karthiga Santhana Kumar, Dimitra Tripolitsioti, Michael A Grotzer, Martin Baumgartner
Medulloblastoma (MB) is a paediatric cancer of the cerebellum that can develop cerebellar and leptomeningeal metastases. Local brain tissue infiltration, the underlying cause of metastasis and relapse, remains unexplored. We developed a novel approach to investigate tissue infiltration of MB using organotypic cerebellum slice culture (OCSC). We show that cellular and structural components of cerebellar tissue in OCSCs are maintained for up to 30 days ex vivo, and that OCSCs foster tumour growth and cell proliferation...
July 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28700143/consequences-of-brain-tumour-resection-on-emotion-recognition
#8
Giulia Mattavelli, Alberto Pisoni, Alessandra Casarotti, Alessandro Comi, Giada Sera, Marco Riva, Alberto Bizzi, Marco Rossi, Lorenzo Bello, Costanza Papagno
Emotion processing impairments are common in patients undergoing brain surgery for fronto-temporal tumour resection, with potential consequences on social interactions. However, evidence is controversial concerning side and site of lesions causing such deficits. This study investigates visual and auditory emotion recognition in brain tumour patients with the aim of clarifying which lesion sites are related to impairments in emotion processing from different modalities. Thirty-four patients were evaluated, before and after surgery, on facial expression and emotional prosody recognition; voxel-based lesion-symptom mapping (VLSM) analyses were performed on patients' post-surgery MRI images...
July 12, 2017: Journal of Neuropsychology
https://www.readbyqxmd.com/read/28699908/expression-of-protein-kinase-c-gamma-promotes-cell-migration-in-colon-cancer
#9
Catríona M Dowling, Sheri L Hayes, James J Phelan, Mary Clare Cathcart, Stephen P Finn, Brian Mehigan, Paul McCormick, John C Coffey, Jacintha O'Sullivan, Patrick A Kiely
Despite extensive efforts, Protein Kinase Cs (PKCs) have proven to be an intractable target in cancer therapies. Traditionally it was accepted that PKCs act as tumour promoters, however new research suggests that PKCs may play an important role in the suppression of cancer. A challenge in targeting PKCs is the limited data available in patient samples. One of the PKC isozymes, PKC gamma, is thought to be present only in the brain and has been largely neglected in the context of cancer. Analysis of gene expression levels of PKC gamma in patient matched normal and colon cancer tissue samples revealed an up-regulation of the gene in the cancer tissue of 54% of the patients examined...
July 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/28698943/noninvasive-electrical-conductivity-measurement-by-mri-a-test-of-its-validity-and-the-electrical-conductivity-characteristics-of-glioma
#10
Khin Khin Tha, Ulrich Katscher, Shigeru Yamaguchi, Christian Stehning, Shunsuke Terasaka, Noriyuki Fujima, Kohsuke Kudo, Ken Kazumata, Toru Yamamoto, Marc Van Cauteren, Hiroki Shirato
OBJECTIVES: This study noninvasively examined the electrical conductivity (σ) characteristics of diffuse gliomas using MRI and tested its validity. METHODS: MRI including a 3D steady-state free precession (3D SSFP) sequence was performed on 30 glioma patients. The σ maps were reconstructed from the phase images of the 3D SSFP sequence. The σ histogram metrics were extracted and compared among the contrast-enhanced (CET) and noncontrast-enhanced tumour components (NCET) and normal brain parenchyma (NP)...
July 11, 2017: European Radiology
https://www.readbyqxmd.com/read/28695888/somatic-chromosomal-engineering-identifies-bcan-ntrk1-as-a-potent-glioma-driver-and-therapeutic-target
#11
Peter J Cook, Rozario Thomas, Ram Kannan, Esther Sanchez de Leon, Alexander Drilon, Marc K Rosenblum, Maurizio Scaltriti, Robert Benezra, Andrea Ventura
The widespread application of high-throughput sequencing methods is resulting in the identification of a rapidly growing number of novel gene fusions caused by tumour-specific chromosomal rearrangements, whose oncogenic potential remains unknown. Here we describe a strategy that builds upon recent advances in genome editing and combines ex vivo and in vivo chromosomal engineering to rapidly and effectively interrogate the oncogenic potential of genomic rearrangements identified in human brain cancers. We show that one such rearrangement, an microdeletion resulting in a fusion between Brevican (BCAN) and Neurotrophic Receptor Tyrosine Kinase 1 (NTRK1), is a potent oncogenic driver of high-grade gliomas and confers sensitivity to the experimental TRK inhibitor entrectinib...
July 11, 2017: Nature Communications
https://www.readbyqxmd.com/read/28691414/serum-levels-of-vascular-endothelial-growth-factor-vegf-and-basic-fibroblast-growth-factor-bfgf-in-children-with-brain-tumours
#12
Grażyna Sobol-Milejska, Agnieszka Mizia-Malarz, Katarzyna Musiol, Jerzy Chudek, Maria Bożentowicz-Wikarek, Halina Wos, Marek Mandera
BACKGROUND: Angiogenesis is a process of new vessel formation originating from the already present vascular network. It plays an important role in the growth and spreading of malignancies, including brain tumours. Process of angiogenesis is characterised by increased expression of vascular endothelial growth factor (VEGF) and basic fibroblast growth factor (bFGF), and release of their soluble forms into circulation. OBJECTIVES: The aim of the study was to evaluate serum levels of VEGF and bFGF in children with malignant and benign brain tumours...
June 27, 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/28689346/electromagnetic-navigation-guided-neuroendoscopic-removal-of-radiation-induced-intraforniceal-cavernoma-as-a-late-complication-of-medulloblastoma-treatment
#13
Petr Liby, J Zamecnik, M Kyncl, J Zackova, M Tichy
INTRODUCTION: Medulloblastoma is the most frequent malignant brain tumour in children. Radiation-induced cavernous haemangiomas (RICHs) are a known late complication of radiation exposure, especially in young children. CASE REPORT: We present a patient who underwent subtotal resection of posterior fossa medulloblastoma with subsequent chemotherapy and radiotherapy at the age of 10 years. A new lesion in the region of the left foramen of Monro appeared 16 years later...
July 8, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28687375/post-operative-stereotactic-radiosurgery-versus-observation-for-completely-resected-brain-metastases-a-single-centre-randomised-controlled-phase-3-trial
#14
Anita Mahajan, Salmaan Ahmed, Mary Frances McAleer, Jeffrey S Weinberg, Jing Li, Paul Brown, Stephen Settle, Sujit S Prabhu, Frederick F Lang, Nicholas Levine, Susan McGovern, Erik Sulman, Ian E McCutcheon, Syed Azeem, Daniel Cahill, Claudio Tatsui, Amy B Heimberger, Sherise Ferguson, Amol Ghia, Franco Demonte, Shaan Raza, Nandita Guha-Thakurta, James Yang, Raymond Sawaya, Kenneth R Hess, Ganesh Rao
BACKGROUND: After brain metastasis resection, whole brain radiotherapy decreases local recurrence, but might cause cognitive decline. We did this study to determine if stereotactic radiosurgery (SRS) to the surgical cavity improved time to local recurrence compared with that for surgical resection alone. METHODS: In this randomised, controlled, phase 3 trial, we recruited patients at a single tertiary cancer centre in the USA. Eligible patients were older than 3 years, had a Karnofsky Performance Score of 70 or higher, were able to have an MRI scan, and had a complete resection of one to three brain metastases (with a maximum diameter of the resection cavity ≤4 cm)...
July 4, 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28683157/growth-impairment-and-gonadal-axis-abnormalities-are-common-in-survivors-of-paediatric-brain-tumours
#15
Sari Pietilä, Anne Mäkipernaa, Anna-Maija Koivisto, Hanna L Lenko
AIM: Childhood brain tumour survivors have a high risk of endocrine morbidity. This study evaluated the growth, pubertal development and gonadal function in survivors of childhood brain tumours and identified factors associated with the problems we observed. METHODS: The 52 subjects (52% male) were diagnosed in 1983-1997 and treated for brain tumours at Tampere University Hospital, Finland. They were followed up at a mean age of 14.2 (3.8-28.7) years, a mean of 7...
July 6, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28681125/a-cross-sectional-review-of-patient-information-available-in-the-world-wide-web-on-cyberknife-fallacies-and-pitfalls
#16
Durgapoorna Menon, Prameela G Chelakkot, Devika Sunil, Ashwini Lakshmaiah
PURPOSE: The purpose of this study is to assess the quality of videos available in YouTube on CyberKnife. METHODS: The term "CyberKnife" was input into the search window of www.youtube.com on a specific date and the first 50 videos were assessed for technical and content issues. The data was tabulated and analysed. RESULTS: The search yielded 32,300 videos in 0.33 s. Among the first 50 analysed, most were professional videos, mostly on CyberKnife in general and for brain tumours...
July 5, 2017: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/28680873/amino-acid-pet-and-mr-perfusion-imaging-in-brain-tumours
#17
REVIEW
Christian P Filss, Francesco Cicone, Nadim Jon Shah, Norbert Galldiks, Karl-Josef Langen
PURPOSE: Despite the excellent capacity of the conventional MRI to image brain tumours, problems remain in answering a number of critical diagnostic questions. To overcome these diagnostic shortcomings, PET using radiolabeled amino acids and perfusion-weighted imaging (PWI) are currently under clinical evaluation. The role of amino acid PET and PWI in different diagnostic challenges in brain tumours is controversial. METHODS: Based on the literature and experience of our centres in correlative imaging with PWI and PET using O-(2-[(18)F]fluoroethyl)-l-tyrosine or 3,4-dihydroxy-6-[(18)F]-fluoro-l-phenylalanine, the current role and shortcomings of amino acid PET and PWI in different diagnostic challenges in brain tumours are reviewed...
2017: Clinical and Translational Imaging: Reviews in Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28680293/molecular-progression-in-unusual-recurrent-non-pediatric-intracranial-clear-cell-meningioma
#18
B Domingo-Arrué, R Gil-Benso, J Megías, L Navarro, T San-Miguel, L Muñoz-Hidalgo, C López-Ginés, M Cerdá-Nicolás
We report a case of a recurrent clear cell meningioma (ccm) in the frontal lobe of the brain of a 67-year-old man. The patient developed three recurrences: at 3, 10, and 12 years after his initial surgery. Histopathology observations revealed a grade 2 ccm with positivity for vimentin and epithelial membrane antigen. Expression of E-cadherin was positive only in the primary tumour and in the first available recurrence. Fluorescence in situ hybridization analyses demonstrated 1p and 14q deletions within the last recurrence...
June 2017: Current Oncology
https://www.readbyqxmd.com/read/28680270/parents-assessments-of-disability-in-their-children-using-world-health-organization-international-classification-of-functioning-disability-and-health-child-and-youth-version-joined-body-functions-and-activity-codes-related-to-everyday-life
#19
Niels Ove Illum, Kim Oren Gradel
AIM: To help parents assess disability in their own children using World Health Organization (WHO) International Classification of Functioning, Disability and Health, Child and Youth Version (ICF-CY) code qualifier scoring and to assess the validity and reliability of the data sets obtained. METHOD: Parents of 162 children with spina bifida, spinal muscular atrophy, muscular disorders, cerebral palsy, visual impairment, hearing impairment, mental disability, or disability following brain tumours performed scoring for 26 body functions qualifiers (b codes) and activities and participation qualifiers (d codes)...
2017: Clinical Medicine Insights. Pediatrics
https://www.readbyqxmd.com/read/28677863/netrin-1-and-multiple-sclerosis-a-new-biomarker-for-neuroinflammation
#20
P Mulero, C Córdova, M Hernández, R Martín, B Gutiérrez, J C Muñoz, N Redondo, I Gallardo, N Téllez, M L Nieto
BACKGROUND AND PURPOSE: Netrin-1, an axon guidance protein, reduces serum levels of pro-inflammatory mediators and stabilizes the blood-brain barrier limiting the entrance of immune cells into the central nervous system. The aim was to investigate its presence in the experimental autoimmune encephalomyelitis (EAE) model and in multiple sclerosis (MS) patients with and without clinical activity. METHODS: Netrin-1 levels were evaluated in EAE mouse tissues. Afterwards, serum netrin-1 was cross-sectionally quantified in 90 patients with different MS phenotypes and 30 control subjects...
July 5, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
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