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https://www.readbyqxmd.com/read/29785566/delineating-a-new-feature-of-constitutional-mismatch-repair-deficiency-cmmrd-syndrome-breast-cancer
#1
Lisa Bush, Melyssa Aronson, Uri Tabori, Brittany B Campbell, Raymond B Bedgood, Kory Jasperson
Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive hereditary cancer condition, characterized by an exceptionally high risk of cancer, a propensity for childhood malignancies, and cutaneous features reminiscent of neurofibromatosis type 1 (NF1). We report on two sisters originally suspected of having CMMRD syndrome due to their history of colonic polyps and NF1 associated skin findings, both were subsequently found to have biallelic MSH6 mutations. After years of CMMRD syndrome follow-up, the proband was diagnosed with breast cancer at age 29, while her sister was diagnosed with a glioblastoma at age 27...
May 21, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29785266/atypical-teratoid-rhabdoid-tumor-in-a-65-year-old-man-presenting-with-disseminated-leptomeningeal-disease-a-case-report-and-review-of-the-literature
#2
Marc-Alain Babi, Peter Fecci, Matthew Luedke, Olinda Pineda, Yasmin Ali O'Keefe
Central nervous system atypical teratoid rhabdoid tumors are very rare aggressive tumor of childhood, primarily occurring at age of less than 3 years old. The prognosis of these tumors is very poor, with a reported median survival of 6-12 months in most cases. Treatment typically consists of aggressive chemotherapy and radiotherapy. We present the case of a 65-year-old man who presented with progressive encephalopathy and change in personality over 3 months period. The patient had further accelerated decline over 3 weeks...
2018: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29785119/clinical-relevance-of-lysyl-oxidase-like-2-and-functional-mechanisms-in-glioma
#3
Xiao-Guang Du, Mei-Jia Zhu
Introduction: Glioma is the most frequent malignancy of the adult central nervous system with high recurrence risk and poor prognosis. Understanding the biological molecular mechanisms involved in glioma progression is critical for studying oncogenic mechanisms and improving prognosis. Lysyl oxidase-like 2 (LOXL2) is a kind of lysyl oxidase catalyzing the formation of peptidyl-lysine residues and promoting intramolecular cross-linking, especially for proteins in extracellular matrix. Our study explored the expression pattern of LOXL2 in glioma for the first time and found that its high expression was associated with larger tumor size and advanced tumor grade ( P <0...
2018: OncoTargets and Therapy
https://www.readbyqxmd.com/read/29784746/role-of-molecular-pathology-in-the-treatment-of-anaplastic-gliomas-and-glioblastomas
#4
Matthias Holdhoff
The 2016 WHO Classification of Tumors of the Central Nervous System integrated molecular biomarkers into the classifications of malignant gliomas. Several markers now play a key role in our understanding of these tumors and are integral for clinical decision-making; these include codeletion of 1p and 19q and IDH1 and IDH2 mutations. The presentation by Matthias Holdhoff, MD, PhD, at the NCCN 23rd Annual Conference discussed the current understanding of anaplastic gliomas (WHO grade III) in the context of the new classification and its implications on clinical practice...
May 2018: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/29783757/a-repurposed-drug-for-brain-cancer-enhanced-atovaquone-amorphous-solid-dispersion-by-combining-a-spontaneously-emulsifying-component-with-a-polymer-carrier
#5
Hiroyuki Takabe, Zachary N Warnken, Yajie Zhang, Daniel A Davis, Hugh D C Smyth, John G Kuhn, Steve Weitman, Robert O Williams Iii
Glioblastoma multiforme (GBM) is the most common and lethal central nervous system tumor. Recently, atovaquone has shown inhibition of signal transducer and activator transcription 3, a promising target for GBM therapy. However, it is currently unable to achieve therapeutic drug concentrations in the brain with the currently reported and marketed formulations. The present study sought to explore the efficacy of atovaquone against GBM as well as develop a formulation of atovaquone that would improve oral bioavailability, resulting in higher amounts of drug delivered to the brain...
May 19, 2018: Pharmaceutics
https://www.readbyqxmd.com/read/29780305/comparing-effects-of-transforming-growth-factor-%C3%AE-1-on-microglia-from-rat-and-mouse-transcriptional-profiles-and-potassium-channels
#6
Starlee Lively, Doris Lam, Raymond Wong, Lyanne C Schlichter
The cytokine, transforming growth factor β1 (TGFβ1), is up-regulated after central nervous system (CNS) injuries or diseases involving microglial activation, and it has been proposed as a therapeutic agent for treating neuroinflammation. Microglia can produce and respond to TGFβ1. While rats and mice are commonly used for studying neuroinflammation, very few reports directly compare them. Such studies are important for improving pre-clinical studies and furthering translational progress in developing therapeutic interventions...
2018: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/29777944/the-post-surgical-era-of-gbm-how-molecular-biology-has-impacted-on-our-clinical-management-a-review
#7
REVIEW
M Monticelli, P Zeppa, F Zenga, R Altieri, M Mammi, L Bertero, I Castellano, P Cassoni, A Melcarne, G La Rocca, G Sabatino, A Ducati, D Garbossa
Glioblastoma (GBM) is the most common glioma in adults, with incidence increasing by 3% per year. According to the World Health Organization Classification of Central Nervous System Tumors, GBM is considered a grade IV tumor due to its malignant behavior. The aim of this review is to summarize the main biological aspects of GBM. In particular, we focused our attention on those alterations which have been proven to have an impact on patients' outcome, mainly in terms of overall survival (OS), or on the tumor response to therapies...
May 16, 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29777137/enhanced-efficacy-of-combined-temozolomide-and-bromodomain-inhibitor-therapy-for-gliomas-using-targeted-nanoparticles
#8
Fred C Lam, Stephen W Morton, Jeffrey Wyckoff, Tu-Lan Vu Han, Mun Kyung Hwang, Amanda Maffa, Elena Balkanska-Sinclair, Michael B Yaffe, Scott R Floyd, Paula T Hammond
Effective treatment for glioblastoma (GBM) is limited by the presence of the blood-brain barrier (BBB) and rapid resistance to single agent therapies. To address these issues, we developed a transferrin-functionalized nanoparticle (Tf-NP) that can deliver dual combination therapies. Using intravital imaging, we show the ability of Tf-NPs to traverse intact BBB in mice as well as achieve direct tumor binding in two intracranial orthotopic models of GBM. Treatment of tumor-bearing mice with Tf-NPs loaded with temozolomide and the bromodomain inhibitor JQ1 leads to increased DNA damage and apoptosis that correlates with a 1...
May 18, 2018: Nature Communications
https://www.readbyqxmd.com/read/29775613/suppression-of-nlrp3-inflammasome-attenuates-stress-induced-depression-like-behavior-in-nlgn3-deficient-mice
#9
Ze-Qun Li, Zhi-Yuan Yan, Bo-Jun Lan, Yi-Qun Dong, Ye Xiong
Depression, regulated by central nervous system (CNS), is a significant inflammatory disorder. Neuroligin3 (NLGN3) has been implicated in brain functions. In the study, a chronic unpredictable mild stress (CUMS) model in wild type (WT) or NLGN3-knockout (KO) mice was established to explore the role of NLGN3 in regulating depression and to reveal the underlying molecular mechanism. The results indicated that NLGN3-knockout markedly reversed the loss of body weight, the reduction of sucrose consumption, the decrease of immobile time in the forced swimming tests (FST) and tail suspension tests (TST) induced by CUMS paradigm...
May 15, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29775073/diffuse-gliomas-for-nonneuropathologists-the-new-integrated-molecular-diagnostics
#10
Sunhee C Lee
Diffuse gliomas comprise the bulk of "brain cancer" in adults. The recent update to the 4th edition of the World Health Organization's classification of tumors of the central nervous system reflects an unprecedented change in the landscape of the diagnosis and management of diffuse gliomas that will affect all those involved in the management and care of patients. Of the recently discovered gene alterations, mutations in the Krebs cycle enzymes isocitrate dehydrogenases (IDHs) 1 and 2 have fundamentally changed the way the gliomas are understood and classified...
May 18, 2018: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/29774876/-clinicopathological-features-for-epithelioid-glioblastoma-a-newly-defined-tumor-by-the-2016-world-health-organization-classification-of-tumors-of-the-central-nervous-system
#11
Juan Li, Xuebing Ling, Mingyao Lai, Qingjun Hu, Changguo Shan, Linbo Cai
To retrospectively summarize the clinicopathological features of epithelioid glioblastoma (Ep-GBM) and to explore new treatment for Ep-GBM.
 Methods: The clinical data of 13 patients with Ep-GBM, who were treated in our department from March 2016 to July 2017, were retrospectively analyzed. The clinicopathological features were summarized and the efficacy was evaluated.
 Results: The positive rate of BRAFV600E mutant and INI-1 was 76.9% (10/13) and 80% (8/10), respectively, while the median Ki-67 index was 30%...
April 28, 2018: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/29774870/radiomics-in-gliomas-a-promising-assistance-for-glioma-clinical-research
#12
Yueshuang Leng, Xiaoyi Wang, Weihua Liao, Ya Cao
Gliomas are the most common brain primary tumors worldwide, which is the earliest sequenced cancer gene in the Cancer Genome Atlas (TCGA) project. The World Health Organization Classification Update of Central Nervous System (CNS) Tumors 2016 highlights that glioma is the first tumor classified based on both of the molecular markers and histology. Radiomics is an extraction approach for high-throughput data which collects the quantitative image information appearing. Combined imaging data with genomics and proteomics, radiomics show promising prediction for cancer diagnosis, treatment, and prognosis...
April 28, 2018: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/29774098/establishment-of-primary-cell-culture-and-an-intracranial-xenograft-model-of-pediatric-ependymoma-a-prospect-for-therapy-development-and-understanding-of-tumor-biology
#13
Lorena Favaro Pavon, Tatiana Tais Sibov, Silvia Regina Caminada de Toledo, Daniela Mara de Oliveira, Francisco Romero Cabral, Jean Gabriel de Souza, Pamela Boufleur, Luciana C Marti, Jackeline Moraes Malheiros, Edgar Ferreira da Cruz, Fernando F Paiva, Suzana M F Malheiros, Manoel A de Paiva Neto, Alberto Tannús, Sérgio Mascarenhas de Oliveira, Nasjla Saba Silva, Andrea Maria Cappellano, Antonio Sérgio Petrilli, Ana Marisa Chudzinski-Tavassi, Sérgio Cavalheiro
Background: Ependymoma (EPN), the third most common pediatric brain tumor, is a central nervous system (CNS) malignancy originating from the walls of the ventricular system. Surgical resection followed by radiation therapy has been the primary treatment for most pediatric intracranial EPNs. Despite numerous studies into the prognostic value of histological classification, the extent of surgical resection and adjuvant radiotherapy, there have been relatively few studies into the molecular and cellular biology of EPNs...
April 24, 2018: Oncotarget
https://www.readbyqxmd.com/read/29772621/-a-case-of-choroidal-and-brain-metastases-from-castration-resistant-prostate-cancer
#14
Shuko Yoneyama, Takahiko Watanabe, Tatsuaki Onuki, Kazuro Yabuki, Kotaro Suzuki
Choroidal and central nervous system metastases from prostate cancer are extremely rare. We report a case of choroidal and brain metastases from castration-resistant prostate cancer (CRPC). A 75-year-old male patient with metastatic CRPC presented with a 1-week history of a decrease in visual acuity in his left eye. An ophthalmoscopic examination revealed a choroidal tumor, 4 disc diameters across with serious retinal detachment. He was diagnosed with metastatic choroidal tumor from examination and patient's background...
April 2018: Hinyokika Kiyo. Acta Urologica Japonica
https://www.readbyqxmd.com/read/29772358/tumor-to-lesion-metastasis-a-case-report-of-carcinoma-metastasis-to-multiple-sclerosis-lesion
#15
Jian-Qiang Lu, Suresh Menon, Crystal Fong, Boleslaw Lach, Christopher Power
BACKGROUND: The term of "tumor-to-lesion metastasis" is an extension of "tumor-to-tumor metastasis", which is a rare but well-documented phenomenon. Tumor metastasis to the meninges and/or central nervous system (CNS) is rare in patents with multiple sclerosis (MS), although MS lesions bear many similarities to the primary tumor microenvironment and the metastatic niche. We present the first case of malignant tumor metastasis to MS lesions with immunophenotyping of inflammatory cells in the metastatic foci...
May 14, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29770253/simultaneous-cerebrospinal-fluid-and-hematologic-metastases-in-a-high-grade-ependymoma
#16
Daniel Diaz-Aguilar, Sergei Terterov, Alexander M Tucker, Shaina Sedighim, Rudi Scharnweber, Stephanie Wang, Catherine Merna, Shayan Rahman
Background: Ependymomas are relatively uncommon tumors that constitute about 7% of all primary intracranial neoplasms. Among these, high-grade ependymomas are locally aggressive and recur most commonly at the primary site following resection. Ependymomas are also known to be the one glial neoplasm that tends to frequently metastasize inside and outside the central nervous system (CNS) that complicates workup and management. Metastasis due to surgical manipulation is common and neurosurgeons should be well-versed in the most effective methods to remove these tumors in order to avoid such metastases...
2018: Surgical Neurology International
https://www.readbyqxmd.com/read/29770114/extracts-of-artocarpus-communis-induce-mitochondria-associated-apoptosis-via-pro-oxidative-activity-in-human-glioblastoma-cells
#17
Chiang-Wen Lee, Lee-Fen Hsu, Ming-Hsueh Lee, I-Ta Lee, Ju-Fang Liu, Yao-Chang Chiang, Ming-Horng Tsai
Glioblastoma multiforme (GBM) is an extremely aggressive and devastating malignant tumor in the central nervous system. Its incidence is increasing and the prognosis is poor. Artocarpin is a natural prenylated flavonoid with various anti-inflammatory and anti-tumor properties. Studies have shown that artocarpin is associated with cell death of primary glioblastoma cells. However, the in vivo effects and the cellular and molecular mechanisms modulating the anticancer activities of artocarpin remain unknown. In this study, we demonstrated that treating the glioblastoma cell lines U87 and U118 cells with artocarpin induced apoptosis...
2018: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/29769456/machine-learning-based-texture-analysis-of-contrast-enhanced-mr-imaging-to-differentiate-between-glioblastoma-and-primary-central-nervous-system-lymphoma
#18
Akira Kunimatsu, Natsuko Kunimatsu, Koichiro Yasaka, Hiroyuki Akai, Kouhei Kamiya, Takeyuki Watadani, Harushi Mori, Osamu Abe
PURPOSE: Although advanced MRI techniques are increasingly available, imaging differentiation between glioblastoma and primary central nervous system lymphoma (PCNSL) is sometimes confusing. We aimed to evaluate the performance of image classification by support vector machine, a method of traditional machine learning, using texture features computed from contrast-enhanced T1 -weighted images. METHODS: This retrospective study on preoperative brain tumor MRI included 76 consecutives, initially treated patients with glioblastoma (n = 55) or PCNSL (n = 21) from one institution, consisting of independent training group (n = 60: 44 glioblastomas and 16 PCNSLs) and test group (n = 16: 11 glioblastomas and 5 PCNSLs) sequentially separated by time periods...
May 16, 2018: Magnetic Resonance in Medical Sciences: MRMS
https://www.readbyqxmd.com/read/29766217/involvement-of-extrasynaptic-glutamate-in-physiological-and-pathophysiological-changes-of-neuronal-excitability
#19
REVIEW
Balázs Pál
Glutamate is the most abundant neurotransmitter of the central nervous system, as the majority of neurons use glutamate as neurotransmitter. It is also well known that this neurotransmitter is not restricted to synaptic clefts, but found in the extrasynaptic regions as ambient glutamate. Extrasynaptic glutamate originates from spillover of synaptic release, as well as from astrocytes and microglia. Its concentration is magnitudes lower than in the synaptic cleft, but receptors responding to it have higher affinity for it...
May 15, 2018: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/29764516/somatic-mutation-landscape-of-a-meningioma-and-its-pulmonary-metastasis
#20
Yaran Du, Ting Lu, Song Huang, Fangfang Ren, Gang Cui, Jian Chen
BACKGROUND: Extracranial metastasis (ENM) of meningiomas is extremely rare, and typically occurs several years after a primary tumor is diagnosed. However, the genetic changes underlying ENM events have not yet been investigated. CASE PRESENTATION: A 58-year-old male patient was sent to the emergency room of our hospital because of a sudden fall. Magnetic resonance imaging detected a mass at the right frontal sagittal sinus. He underwent tumor resection and recovered well, but post-operative computed tomography revealed three lumps on the right side of his chest...
May 4, 2018: Cancer communications
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