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https://www.readbyqxmd.com/read/28222441/unusual-occurrence-of-multifocal-desmoplastic-infantile-astrocytoma-a-case-report-and-review-of-the-literature
#1
Vinayak Narayan, Amey R Savardekar, Anita Mahadevan, Arimappamagan Arivazhagan, Lingegowda Appaji
Desmoplastic infantile gliomas are rare, benign tumors of the early infancy period. Two histological subtypes - desmoplastic infantile astrocytoma (DIA) and desmoplastic infantile ganglioglioma - have been described. The characteristic features of DIAs are lobar location, glial histology, and excellent prognosis after complete surgical excision. DIAs usually present as solitary, cortical-surfacing, solid-cystic neoplasms; however, atypical, aggressive, and multifocal variants of DIA have been reported in the literature...
February 22, 2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28144989/dentatorubral-pallidoluysian-atrophy-drpla-with-a-small-ganglioglioma-component-containing-neurofibrillary-tangles-and-polyglutamine-aggregation
#2
Seiji Yamada, Tatsuya Yamazaki, Satoshi Nakata, Sumihito Nobusawa, Hayato Ikota, Munenori Ide, Kazuyuki Mizushima, Yasuo Harigaya, Junko Hirato, Hideaki Yokoo
Dentatorubral-pallidoluysian atrophy (DRPLA), one of the polyglutamine diseases, has not been reported in combination with ganglioglioma (GG). Herein, we report an autopsy case of a 72-year-old man with DRPLA with a small GG component harboring neurofibrillary tangles (NFTs) and polyglutamine aggregates. NFTs, cytoplasmic accumulations of hyper-phosphorylated tau, are mainly observed in Alzheimer's disease (AD) and other tau-associated neurodegenerative disorders. NFTs can also be present in normal aging, and are occasionally observed in low-grade central nervous system (CNS) neoplasms such as GG...
January 31, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28111355/epigenetics-in-epilepsy
#3
REVIEW
K Kobow, I Blümcke
Approximately 50 million people have epilepsy, making it the most common chronic and severe neurological disease worldwide, with increased risk of mortality and psychological and socioeconomic consequences impairing quality of life. More than 30% of patients with epilepsy have inadequate control of their seizures with drug therapy. Any structural brain lesion can provoke epilepsy. However, progression of seizure activity as well as the development of drug-resistance remains difficult to predict, irrespective of the underlying epileptogenic condition, i...
January 19, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28110204/new-classification-of-epilepsy-related-neoplasms-the-clinical-perspective
#4
REVIEW
Burkhard S Kasper, Ekkehard M Kasper
Neoplastic CNS lesions are a common cause of focal epilepsy refractory to anticonvulsant treatment, i.e. long-term epilepsy-associated tumors (LEATs). Epileptogenic tumors encompass a variety of intriguing lesions, e.g. dysembryoplastic neuroepithelial tumors or gangliogliomas, which differ from more common CNS neoplasms in their clinical context as well as on histopathology. Long-term epilepsy-associated tumor classification is a rapidly evolving issue in surgical neuropathology, with new entities still being elucidated...
January 18, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28098941/posterior-cortex-epilepsy-surgery-in-childhood-and-adolescence-predictors-of-long-term-seizure-outcome
#5
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...
January 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28069802/genomic-profiling-of-a-large-set-of-diverse-pediatric-cancers-identifies-known-and-novel-mutations-across-tumor-spectra
#6
Juliann Chmielecki, Mark Bailey, Jie He, Julia Elvin, Jo-Anne Vergilio, Shakti Ramkissoon, James Suh, Garrett M Frampton, James X Sun, Samantha Morley, Daniel Spritz, Siraj Ali, Laurie Gay, Rachel L Erlich, Jeffrey S Ross, Joana Buxhaku, Hilary Davies, Vinny Faso, Alexis Germain, Blair Glanville, Vincent A Miller, Philip J Stephens, Katherine A Janeway, John M Maris, Soheil Meshinchi, Trevor J Pugh, Jack F Shern, Doron Lipson
Pediatric cancers are generally characterized by low mutational burden and few recurrently mutated genes. Recent studies suggest that genomic alterations may help guide treatment decisions and clinical trial selection. Here, we describe genomic profiles from 1,215 pediatric tumors representing sarcomas, extracranial embryonal tumors, brain tumors, hematologic malignancies, carcinomas, and gonadal tumors. Comparable published datasets identified similar frequencies of clinically relevant alterations, validating this dataset as biologically relevant...
January 15, 2017: Cancer Research
https://www.readbyqxmd.com/read/28041673/epilepsy-related-brain-tumors
#7
REVIEW
Özdem Ertürk Çetin, Cihan İşler, Mustafa Uzan, Çiğdem Özkara
Seizures are among the most common presentations of brain tumors. Several tumor types can cause seizures in varying rates; neuroglial tumors and the gliomas are the most common ones. Brain tumors are the second most common cause of focal intractable epilepsy in epilepsy surgery series, with the highest frequency being dysembryoplastic neuroepithelial tumors and gangliogliomas. Seizure management is an important part of the treatment of patients with brain tumors. This review discusses clinical features and management of seizures in patients with brain tumors, including, neuroglial tumors, gliomas, meningioma and metastases; with the help of recent literature data...
January 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28017579/seizures-caused-by-brain-tumors-in-children
#8
Iván Sánchez Fernández, Tobias Loddenkemper
PURPOSE: To review the epidemiology, clinical features, and treatment of seizures secondary to pediatric brain tumors. METHOD: Literature review. RESULTS: Pediatric brain tumors are the most common solid pediatric tumor and the most common cause of death in pediatric cancer. Seizures are one of the most common symptoms of pediatric brain tumors. Factors associated with increased risk of seizures include supratentorial location, gray matter involvement, low-grade, and certain histological features-especially dysembryoplastic neuroepithelial tumor, ganglioglioma, and oligodendroglioma...
December 7, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27992000/refractory-epilepsy-in-children-with-brain-tumors-the-urgency-of-neurosurgery
#9
Marília Rosa Abtibol Bernardino, Carolina Funayama, Ana Paula Andrade Hamad, Hélio Machado, Américo Sakamoto, Ursula Thome, Vera Cristina Terra, Antonio Carlos Dos Santos
In order to verify indications for surgery, 27 patients with refractory epileptic seizures and brain tumor, aged up to 19 years at the time of surgery, were studied between 1996 and 2013 and followed up for at least one year. The mean interval between the onset of seizures and the diagnosis of the tumor was 3.6 years, and from diagnosis to the surgery, 18 months. The location of the tumor was in the temporal lobe in 16, with ganglioglioma and dysembryoplastic neuroepithelial tumors being the most frequent. Among the patients, 92...
December 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27984807/braf-v600e-mutation-in-epilepsy-associated-glioneuronal-tumors-prevalence-and-correlation-with-clinical-features-in-a-chinese-population
#10
Yin-Xi Zhang, Chun-Hong Shen, Yi Guo, Yang Zheng, Jun-Ming Zhu, Yao Ding, Ye-Lei Tang, Shuang Wang, Mei-Ping Ding
PURPOSE: Glioneuronal tumors (GNTs) are the most common histological type of brain tumors in patients who received epilepsy surgery, and part of them presented with BRAF V600E mutation. We aimed to verify the presence of the BRAF V600E mutation in epilepsy-associated GNTs from Chinese population and evaluate the association with clinical features. METHODS: Data from 35 patients diagnosed with GNTs, including 24 gangliogliomas and 11 dysembryoplastic neuroepithelial tumors, were retrospectively collected...
December 9, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27984673/co-occurrence-of-histone-h3-k27m-and-braf-v600e-mutations-in-paediatric-midline-grade-i-ganglioglioma
#11
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/27936528/infratentorial-ganglioglioma-mimicking-pilocytic-astrocytoma
#12
Kirti Gupta, Madhivanan Karthigeyan, Pravin Salunke
Majority of tumors arising in posterior fossa in children are pilocytic astrocytoma. However, a small subset of these have a neuronal component that may either be admixed throughout with the glial component or may be segregated to one or two regions within the glial element. Interestingly, the radiological features of this subgroup are also distinctive, showing midline location, frequent cyst formation, hemorrhage, and circumscribed nature. Taken together, both radiological and pathological features can fairly predict the subgroup categorization within infratentorial gangliogliomas (GG), as has been recently elucidated...
December 12, 2016: Clinical Neuropathology
https://www.readbyqxmd.com/read/27921213/pediatric-intracranial-primary-anaplastic-ganglioglioma
#13
Wolf Lüdemann, Rouzbeh Banan, Christian Hartmann, Helmut Bertalanffy, Concezio Di Rocco
BACKGROUND: Primary intracranial anaplastic gangliogliomas are rare tumors in the pediatric patient group. Most of them present with symptoms of elevated pressure or symptomatic epilepsy. Extraaxial location is far more common than axial location. On MRI examination, they mimic pilocytic astrocytomas. The outcome after surgery depends mainly on the possible amount of surgical resection, and oncological therapy is necessary to prevent recurrence of the disease. CASE REPORT: An 11-year-old boy presented with headache and double vision due to obstructive hydrocephalus...
December 5, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27910945/thyroid-transcription-factor-1-distinguishes-subependymal-giant-cell-astrocytoma-from-its-mimics-and-supports-its-cell-origin-from-the-progenitor-cells-in-the-medial-ganglionic-eminence
#14
Jen-Fan Hang, Chih-Yi Hsu, Shih-Chieh Lin, Chih-Chun Wu, Han-Jui Lee, Donald Ming-Tak Ho
Subependymal giant cell astrocytoma is a benign brain tumor mostly associated with tuberous sclerosis complex. However, it may be misinterpreted as other high-grade brain tumors due to the presence of large tumor cells with conspicuous pleomorphism and occasional atypical features, such as tumor necrosis and endothelial proliferation. In this study, we first investigated thyroid transcription factor-1 (TTF-1) expression in a large series of subependymal giant cell astrocytomas and other histologic and locational mimics to validate the diagnostic utility of this marker...
December 2, 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/27860162/desmoplastic-infantile-astrocytoma-ganglioglioma-with-rare-braf-v600d-mutation
#15
Ashley Greer, Nicholas K Foreman, Andrew Donson, Kurtis D Davies, B K Kleinschmidt-DeMasters
BACKGROUND: Desmoplastic infantile astrocytoma (DIA) and desmoplastic infantile gangliogliomas (DIGs) are rare, massive, cystic and solid tumors of infants usually found in superficial cerebral hemispheres. They manifest prominent desmoplastic stroma, admixed neoplastic astrocytes, primitive-appearing small cells, and additional neoplastic ganglion cells in the case of DIGs. While v-Raf murine sarcoma viral oncogene homolog B (BRAF) mutation is found in up to 50% of pediatric gangliogliomas, two recent studies found that it was rare in DIA/DIGs; we sought to assess BRAF status in DIA/DIGs from our institution...
November 10, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27853959/epidemiology-for-primary-brain-tumors-a-nationwide-population-based-study
#16
Amélie Darlix, Sonia Zouaoui, Valérie Rigau, Faiza Bessaoud, Dominique Figarella-Branger, Hélène Mathieu-Daudé, Brigitte Trétarre, Fabienne Bauchet, Hugues Duffau, Luc Taillandier, Luc Bauchet
Primary central nervous system tumors (PCNST) are rare tumors responsible for high mortality and morbidity. Their epidemiology is poorly known, and clinical data are scarcely analyzed at a national level. In this study, we aimed at providing descriptive epidemiological data and incidence rates for all histological subtypes of PCNST according to the WHO classification. We conducted a nationwide population-based study of all newly diagnosed and histologically confirmed PCNST in France, between 2006 and 2011. A total of 57,816 patients were included: male 46...
November 16, 2016: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/27846400/spinal-cordectomy-a-new-hope-for-morbid-spinal-conditions
#17
REVIEW
Subhas K Konar, Tanmoy K Maiti, Shyamal C Bir, Anil Nanda
A spinal cordectomy is a treatment option for several disorders of the spinal cord like post-traumatic syringomyelia, spinal cord tumor and myelomeningocele. We have done a systematic analysis of all reported cases of spinal cordectomy to investigate the possible outcomes and complications. A PubMed search was performed for literature published from 1949 to 2015 with search words "spinal cordectomy", "spinal cord transection" and "cordectomy for malignant spinal cord tumors" to select articles containing information about the indication, outcome and complication of spinal cordectomy performed for diverse etiologies...
January 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/27823711/central-sleep-apnea-in-children-experience-at-a-single-center
#18
Orlane Felix, Alessandro Amaddeo, Jorge Olmo Arroyo, Michel Zerah, Stephanie Puget, Valerie Cormier-Daire, Genevieve Baujat, Graziella Pinto, Marta Fernandez-Bolanos, Brigitte Fauroux
OBJECTIVE: Central sleep apnea (CSA) syndromes are rare in children and data in children over one year of age are scarce. The aim of the study was to describe the sleep characteristics, underlying disorders, management, and outcome of children with CSA. PATIENTS/METHODS: A retrospective chart review of all children >1 year of age, diagnosed with CSA on a laboratory sleep study during a 20-month period, was performed. CSA was defined by a central apnea index (CAI) >5 events/h...
September 2016: Sleep Medicine
https://www.readbyqxmd.com/read/27799506/personalized-treatment-for-a-patient-with-a-braf-v600e-mutation-using-dabrafenib-and-a-tumor-treatment-fields-device-in-a-high-grade-glioma-arising-from-ganglioglioma
#19
Silviya K Meletath, Dean Pavlick, Tim Brennan, Roy Hamilton, Juliann Chmielecki, Julia A Elvin, Norma Palma, Jeffrey S Ross, Vincent A Miller, Philip J Stephens, George Snipes, Veena Rajaram, Siraj M Ali, Isaac Melguizo-Gavilanes
BACKGROUND: Gangliogliomas are slow-growing, low-grade central nervous system tumors affecting children and young adults. However, some patients will experience tumor recurrence and/or malignant progression. This article reports on the clinical history, molecular findings, and treatment response in a patient with BRAF V600-mutated high-grade glioma arising from ganglioglioma. METHODS: Hematoxylin-eosin staining and comprehensive genomic profiling via Foundation One were performed on the tumor sample from a male patient undergoing treatment at the Department of Neuro-Oncology at Baylor University Medical Center...
November 2016: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/27792249/a-comprehensive-analysis-identifies-braf-hotspot-mutations-associated-with-gliomas-with-peculiar-epithelial-morphology
#20
Ryusuke Hatae, Nobuhiro Hata, Satoshi O Suzuki, Koji Yoshimoto, Daisuke Kuga, Hideki Murata, Yojiro Akagi, Yuhei Sangatsuda, Toru Iwaki, Masahiro Mizoguchi, Koji Iihara
Brain tumors harbor various BRAF alterations, the vast majority of which are the BRAF kinase-activating V600E mutation. BRAF mutations are most frequently detected in certain subtypes of low-grade glioma, such as pilocytic astrocytoma (PA), pleomorphic xanthoastrocytoma (PXA), ganglioglioma (GG) and dysembryoplastic neuroepithelial tumor (DNT). However, it is unclear whether gliomas harboring BRAF mutations can be invariably regarded as these glioma subtypes or their derivatives. To address this question, we analyzed 274 gliomas in our institutional case series...
October 28, 2016: Neuropathology: Official Journal of the Japanese Society of Neuropathology
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