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Childhood astrocytoma

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https://www.readbyqxmd.com/read/28805995/germline-pms2-and-somatic-poleexo-mutations-cause-hypermutability-of-the-leading-dna-strand-in-biallelic-mismatch-repair-deficiency-syndrome-brain-tumors
#1
Andrianova Maria, Ghati Kasturirangan Chetan, Madathan Kandi Sibin, Thomas Mckee, Doron Merkler, Rao Kvl Narasinga, Pascale Ribaux, Jean-Louis Blouin, Periklis Makrythanasis, Vladimir B Seplyarskiy, Stylianos E Antonarakis, Sergey I Nikolaev
Biallelic Mismatch Repair Deficiency (bMMRD) in tumors is frequently associated with somatic mutations in the exonuclease domains of DNA polymerases POLE or POLD1 and results to a characteristic mutational profile. In this study we describe the genetic basis of ultramutated high grade brain tumors in the context of bMMRD. We performed exome sequencing of two second-cousin patients from a large consanguineous family of Indian origin with early onset of high grade glioblastoma and astrocytoma. We identified a germline homozygous nonsense variant R802X in the PMS2 gene...
August 14, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28674731/tractography-guides-the-approach-for-resection-of-thalamopeduncular-tumors
#2
Ryan Foley, Frederick Boop
BACKGROUND: Thalamopeduncular tumors arise at the junction of the inferior thalamus and cerebral peduncle, and present with a common clinical syndrome of progressive spastic hemiparesis. METHOD: Formal preoperative magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI) were performed. Postoperative MRI was obtained to evaluate the extent of tumor resection. A prospective analysis of clinical outcomes was then conducted by the senior author. CONCLUSIONS: Preoperative tractography is a useful adjunct to surgical planning in tumors that displace motor pathways...
July 3, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28620004/cancer-and-central-nervous-system-tumor-surveillance-in-pediatric-neurofibromatosis-1
#3
REVIEW
D Gareth R Evans, Hector Salvador, Vivian Y Chang, Ayelet Erez, Stephan D Voss, Kami Wolfe Schneider, Hamish S Scott, Sharon E Plon, Uri Tabori
Although the neurofibromatoses consist of at least three autosomal dominantly inherited disorders, neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis, NF1 represents a multisystem pleiotropic condition very different from the other two. NF1 is a genetic syndrome first manifesting in childhood; affecting multiple organs, childhood development, and neurocognitive status; and presenting the clinician with often complex management decisions that require a multidisciplinary approach. Molecular genetic testing (see article for detailed discussion) is recommended to confirm NF1, particularly in children fulfilling only pigmentary features of the diagnostic criteria...
June 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28606795/endothelium-independent-primitive-myxoid-vascularization-creates-invertebrate-like-channels-to-maintain-blood-supply-in-optic-gliomas
#4
Matija Snuderl, Guoan Zhang, Pamela Wu, Tara S Jennings, Seema Shroff, Valerio Ortenzi, Rajan Jain, Benjamin Cohen, Jason J Reidy, Mitchell S Dushay, Jeffrey H Wisoff, David H Harter, Matthias A Karajannis, David Fenyo, Thomas A Neubert, David Zagzag
Optic gliomas are brain tumors characterized by slow growth, progressive loss of vision, and limited therapeutic options. Optic gliomas contain various amounts of myxoid matrix, which can represent most of the tumor mass. We sought to investigate biological function and protein structure of the myxoid matrix in optic gliomas to identify novel therapeutic targets. We reviewed histological features and clinical imaging properties, analyzed vasculature by immunohistochemistry and electron microscopy, and performed liquid chromatography-mass spectrometry on optic gliomas, which varied in the amount of myxoid matrix...
August 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28485351/pediatric-brain-tumors-an-analysis-of-5-years-of-data-from-a-tertiary-cancer-care-center-india
#5
R Madhavan, B P Kannabiran, A M Nithya, J Kani, P Balasubramaniam, S Shanmugakumar
BACKGROUND: Pediatric brain tumors are the most common solid tumors in children and a leading cause of mortality and morbidity in children worldwide. Even though there are enough data about the epidemiology of pediatric brain tumors in western population, there are only a few reports from developing countries like India. AIMS: To study the epidemiological patterns of brain tumors in children, to study the patterns of care, and to assess the treatment response. MATERIALS AND METHODS: A retrospective epidemiological approach is used...
October 2016: Indian Journal of Cancer
https://www.readbyqxmd.com/read/28477209/parental-smoking-maternal-alcohol-coffee-and-tea-consumption-and-the-risk-of-childhood-brain-tumours-the-estelle-and-escale-studies-sfce-france
#6
Helen D Bailey, Brigitte Lacour, Léa Guerrini-Rousseau, Anne-Isabelle Bertozzi, Pierre Leblond, Cécile Faure-Conter, Isabelle Pellier, Claire Freycon, François Doz, Stéphanie Puget, Stéphane Ducassou, Laurent Orsi, Jacqueline Clavel
PURPOSE: To investigate whether parental smoking around the time of pregnancy or maternal consumption of beverages (alcohol, coffee, or tea) during pregnancy were associated with the risk of CBT. METHODS: We pooled data from two French national population-based case-control studies with similar designs conducted in 2003-2004 and 2010-2011. The mothers of 510 CBT cases (directly recruited from the national childhood cancer register) and 3,102 controls aged under 15 years, frequency matched by age and gender, were interviewed through telephone, which included questions about prenatal parental smoking and maternal consumption of alcohol, coffee and tea...
May 5, 2017: Cancer Causes & Control: CCC
https://www.readbyqxmd.com/read/28388012/methylation-profiling-of-paediatric-pilocytic-astrocytoma-reveals-variants-specifically-associated-with-tumour-location-and-predictive-of-recurrence
#7
Alexandra Sexton-Oates, Andrew Dodgshun, Volker Hovestadt, David T W Jones, David M Ashley, Michael Sullivan, Duncan MacGregor, Richard Saffery
Childhood pilocytic astrocytomas (PA) are low grade tumours with an excellent prognosis. However, a minority, particularly those in surgically inaccessible locations, have poorer long term outcome. At present it is unclear whether anatomical location in isolation, or in combination with underlying biological variation, determines clinical behaviour. Here we have tested the utility of DNA methylation profiling to inform tumour biology and to predict behaviour in paediatric PA. Genome-wide DNA methylation profiles were generated for 117 paediatric PAs...
April 7, 2017: Molecular Oncology
https://www.readbyqxmd.com/read/28387652/pediatric-ependymoma-a-proteomics-perspective
#8
George Th Tsangaris, Chrissa Papathanasiou, Panagiotis G Adamopoulos, Andreas Scorilas, Constantinos E Vorgias, Neofytos Prodromou, Foteini Tzortzatou Stathopoulou, Dimitrios J Stravopodis, Athanasios K Anagnostopoulos
BACKGROUND/AIM: Proteomics based on high-resolution mass spectrometry (MS) is the tool of choice for the analysis of protein presence, modifications and interactions, with increasing emphasis on the examination of tumor tissues. Application of MS-based proteomics offers a detailed picture of tumor tissue characteristics, facilitating the appreciation of different tumor entities, whilst providing reliable and fast results for therapeutic marker targeting and prognostic factor assessment...
March 2017: Cancer Genomics & Proteomics
https://www.readbyqxmd.com/read/28362182/pediatric-spinal-cord-astrocytomas-a-retrospective-study-of-348-patients-from-the-seer-database
#9
Andrew S Luksik, Tomas Garzon-Muvdi, Wuyang Yang, Judy Huang, George I Jallo
OBJECTIVE Intramedullary spinal cord tumors comprise 1%-10% of all childhood central nervous system neoplasms, with astrocytomas representing the most common subtype. Due to their rarity and poor prognosis, large population-based studies are needed to assess the epidemiology and survival risk factors associated with these tumors in the hope of improving outcome. The authors undertook this retrospective study to explore factors that may influence survival in pediatric patients with spinal cord astrocytomas. METHODS Utilizing the Surveillance, Epidemiology, and End Results (SEER) database, a prospective cancer registry, the authors retrospectively assessed survival in histologically confirmed, primary spinal cord astrocytomas in patients 21 years of age and younger...
June 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28357411/gnao1-encephalopathy-broadening-the-phenotype-and-evaluating-treatment-and-outcome
#10
Federica Rachele Danti, Serena Galosi, Marta Romani, Martino Montomoli, Keren J Carss, F Lucy Raymond, Elena Parrini, Claudia Bianchini, Tony McShane, Russell C Dale, Shekeeb S Mohammad, Ubaid Shah, Neil Mahant, Joanne Ng, Amy McTague, Rajib Samanta, Gayatri Vadlamani, Enza Maria Valente, Vincenzo Leuzzi, Manju A Kurian, Renzo Guerrini
OBJECTIVE: To describe better the motor phenotype, molecular genetic features, and clinical course of GNAO1-related disease. METHODS: We reviewed clinical information, video recordings, and neuroimaging of a newly identified cohort of 7 patients with de novo missense and splice site GNAO1 mutations, detected by next-generation sequencing techniques. RESULTS: Patients first presented in early childhood (median age of presentation 10 months, range 0-48 months), with a wide range of clinical symptoms ranging from severe motor and cognitive impairment with marked choreoathetosis, self-injurious behavior, and epileptic encephalopathy to a milder phenotype, featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia and mild epilepsy...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28257299/optic-pathway-glioma-of-childhood
#11
REVIEW
Nailyn Rasool, Jeffrey G Odel, Michael Kazim
PURPOSE OF REVIEW: Optic pathway gliomas (OPG) are the most common tumor of the anterior visual pathway and can involve the optic nerve, chiasm, tract, and optic radiations. They are typically benign lesions, often pilocytic astrocytomas, which are diagnosed in childhood. We review the epidemiology, clinical presentation, diagnosis, and management of these lesions in patients with and without neurofibromatosis type 1 (NF-1). RECENT FINDINGS: Most commonly, patients diagnosed with OPG have NF-1 especially if the lesions are bilateral...
May 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28245445/midbrain-gliofibroma-presenting-in-adulthood-following-cure-of-a-childhood-intraventricular-pilocytic-astrocytoma
#12
Mohammad U Ahmad, Atik Barborie, Barry Pizer, David Husband, Conor Mallucci, Michael D Jenkinson
INTRODUCTION: Gliofibromas are rare biphasic tumours with a good prognosis that usually occur in childhood. Rare adult spinal cases have been treated with radiotherapy. This report describes the case of a gliofibroma occurring in a young adult 10 years after treatment for a childhood pilocytic astrocytoma. CASE: A 14-year-old female underwent complete resection of a right lateral ventricle pilocytic astrocytoma confirmed on postoperative magnetic resonance imaging (MRI)...
2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28245323/temporal-trends-in-treatment-and-subsequent-neoplasm-risk-among-5-year-survivors-of-childhood-cancer-1970-2015
#13
MULTICENTER STUDY
Lucie M Turcotte, Qi Liu, Yutaka Yasui, Michael A Arnold, Sue Hammond, Rebecca M Howell, Susan A Smith, Rita E Weathers, Tara O Henderson, Todd M Gibson, Wendy Leisenring, Gregory T Armstrong, Leslie L Robison, Joseph P Neglia
Importance: Cancer treatments are associated with subsequent neoplasms in survivors of childhood cancer. It is unknown whether temporal changes in therapy are associated with changes in subsequent neoplasm risk. Objective: To quantify the association between temporal changes in treatment dosing and subsequent neoplasm risk. Design, Setting, and Participants: Retrospective, multicenter cohort study of 5-year cancer survivors diagnosed before age 21 years from pediatric tertiary hospitals in the United States and Canada between 1970-1999, with follow-up through December 2015...
February 28, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28219020/anthropometrics-at-birth-and-risk-of-a-primary-central-nervous-system-tumour-a-systematic-review-and-meta-analysis
#14
REVIEW
Marios K Georgakis, Eleni I Kalogirou, Athanasios Liaskas, Maria A Karalexi, Paraskevi Papathoma, Kyriaki Ladopoulou, Maria Kantzanou, Georgios Tsivgoulis, Eleni Th Petridou
BACKGROUND: The aetiology of primary central nervous system (CNS) tumours remains largely unknown, but their childhood peak points to perinatal parameters as tentative risk factors. In this meta-analysis, we opted to quantitatively synthesise published evidence on the association between birth anthropometrics and risk of primary CNS tumour. METHODS: Eligible studies were identified via systematic literature review; random-effects meta-analyses were conducted for the effect of birth weight and size-for-gestational-age on childhood and adult primary CNS tumours; subgroup, sensitivity, meta-regression and dose-response by birth weight category analyses were also performed...
April 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28212424/risk-factors-for-central-nervous-system-tumors-in-children-new-findings-from-a-case-control-study
#15
Rebeca Ramis, Ibon Tamayo-Uria, Diana Gómez-Barroso, Gonzalo López-Abente, Antonio Morales-Piga, Elena Pardo Romaguera, Nuria Aragonés, Javier García-Pérez
BACKGROUND: Central nervous system tumors (CNS) are the most frequent solid tumor in children. Causes of CNS tumors are mainly unknown and only 5% of the cases can be explained by genetic predisposition. We studied the effects of environmental exposure on the incidence of CNS tumors in children by subtype, according to exposure to industrial and/or urban environment, exposure to crops and according to socio-economic status of the child. METHODS: We carried out a population-based case-control study of CNS tumors in Spain, covering 714 incident cases collected from the Spanish Registry of Childhood Tumors (period 1996-2011) and 4284 controls, individually matched by year of birth, sex, and autonomous region of residence...
2017: PloS One
https://www.readbyqxmd.com/read/28187964/brain-perfusion-and-diffusion-abnormalities-in-children-treated-for-posterior-fossa-brain-tumors
#16
Matthew D Li, Nils D Forkert, Palak Kundu, Cheryl Ambler, Robert M Lober, Terry C Burns, Patrick D Barnes, Iris C Gibbs, Gerald A Grant, Paul G Fisher, Samuel H Cheshier, Cynthia J Campen, Michelle Monje, Kristen W Yeom
OBJECTIVE: To compare cerebral perfusion and diffusion in survivors of childhood posterior fossa brain tumor with neurologically normal controls and correlate differences with cognitive dysfunction. STUDY DESIGN: We analyzed retrospectively arterial spin-labeled cerebral blood flow (CBF) and apparent diffusion coefficient (ADC) in 21 patients with medulloblastoma (MB), 18 patients with pilocytic astrocytoma (PA), and 64 neurologically normal children. We generated ANCOVA models to evaluate treatment effects on the cerebral cortex, thalamus, caudate, putamen, globus pallidus, hippocampus, amygdala, nucleus accumbens, and cerebral white matter at time points an average of 5...
June 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28108116/maternal-exposure-to-ambient-air-pollution-and-risk-of-early-childhood-cancers-a-population-based-study-in-ontario-canada
#17
Éric Lavigne, Marc-André Bélair, Minh T Do, David M Stieb, Perry Hystad, Aaron van Donkelaar, Randall V Martin, Daniel L Crouse, Eric Crighton, Hong Chen, Jeffrey R Brook, Richard T Burnett, Scott Weichenthal, Paul J Villeneuve, Teresa To, Sabit Cakmak, Markey Johnson, Abdool S Yasseen, Kenneth C Johnson, Marianna Ofner, Lin Xie, Mark Walker
BACKGROUND: There are increasing concerns regarding the role of exposure to ambient air pollution during pregnancy in the development of early childhood cancers. OBJECTIVE: This population based study examined whether prenatal and early life (<1year of age) exposures to ambient air pollutants, including nitrogen dioxide (NO2) and particulate matter with aerodynamic diameters ≤2.5μm (PM2.5), were associated with selected common early childhood cancers in Canada...
January 17, 2017: Environment International
https://www.readbyqxmd.com/read/28098941/posterior-cortex-epilepsy-surgery-in-childhood-and-adolescence-predictors-of-long-term-seizure-outcome
#18
Georgia Ramantani, Angeliki Stathi, Armin Brandt, Karl Strobl, Susanne Schubert-Bast, Gert Wiegand, Rudolf Korinthenberg, Vera van Velthoven, Josef Zentner, Andreas Schulze-Bonhage, Thomas Bast
OBJECTIVE: We aimed to investigate the long-term seizure outcome of children and adolescents who were undergoing epilepsy surgery in the parietooccipital cortex and determine their predictive factors. METHODS: We retrospectively analyzed the data of 50 consecutive patients aged 11.1 (mean) ± 5.1 (standard deviation) years at surgery. All patients but one had a magnetic resonance imaging (MRI)-visible lesion. Resections were parietal in 40%, occipital in 32%, and parietooccipital in 28% cases; 24% patients additionally underwent a resection of the posterior border of the temporal lobe...
March 2017: Epilepsia
https://www.readbyqxmd.com/read/28039365/complete-prevalence-of-malignant-primary-brain-tumors-registry-data-in-the-united-states-compared-with-other-common-cancers-2010
#19
Adah S Zhang, Quinn T Ostrom, Carol Kruchko, Lisa Rogers, David M Peereboom, Jill S Barnholtz-Sloan
Background.: Complete prevalence proportions illustrate the burden of disease in a population. This study estimates the 2010 complete prevalence of malignant primary brain tumors overall and by Central Brain Tumor Registry of the United States (CBTRUS) histology groups, and compares the brain tumor prevalence estimates to the complete prevalence of other common cancers as determined by the Surveillance, Epidemiology, and End Results Program (SEER) by age at prevalence (2010): children (0-14 y), adolescent and young adult (AYA) (15-39 y), and adult (40+ y)...
May 1, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28009226/report-of-effective-trametinib-therapy-in-2-children-with-progressive-hypothalamic-optic-pathway-pilocytic-astrocytoma-documentation-of-volumetric-response
#20
Catherine Miller, Daniel Guillaume, Kathryn Dusenbery, H Brent Clark, Christopher Moertel
Brain tumors are the most common solid tumor in childhood, and astrocytomas account for the largest proportion of these tumors. Increasing sophistication in genetic testing has allowed for the detection of specific mutations within tumor subtypes that may represent targets for individualized tumor treatment. The mitogen-activating protein kinase (MAPK) pathway and, more specifically, BRAF mutations have been shown to be prevalent in pediatric pilocytic astrocytomas and may represent one such area to target...
March 2017: Journal of Neurosurgery. Pediatrics
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