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https://www.readbyqxmd.com/read/28812310/gliosarcoma-arising-from-oligodendroglioma-idh-mutant-and-1p-19q-codeleted
#1
Takayuki Yasuda, Masayuki Nitta, Takashi Komori, Tatsuya Kobayashi, Kenta Masui, Takashi Maruyama, Tatsuo Sawada, Yoshihiro Muragaki, Takakazu Kawamata
Herein, we present a rare case of gliosarcoma arising from oligodendroglioma, isocitrate dehydrogenase (IDH) mutant and 1p/19q codeleted. A 36-year-old man presented with a non-enhanced calcified abnormal lesion on the right frontal lobe. The patient underwent subtotal surgical resection, PAV chemotherapy (procarbazine, nimustine (ACNU) and vincristine), and fractionated radiotherapy with 50 Gy. The pathological diagnosis was oligodendroglioma, IDH mutant and 1p/19q codeleted, World Health Organization 2016 grade II...
August 15, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28801347/a-simple-algorithmic-approach-using-histology-and-immunohistochemistry-for-the-current-classification-of-adult-diffuse-glioma-in-a-resource-limited-set-up
#2
R T Rajeswarie, Shilpa Rao, Bevinahalli N Nandeesh, T Chickabasaviah Yasha, Vani Santosh
AIMS: The WHO 2016 classification of diffuse gliomas combines histological and molecular parameters for diagnosis. However, in view of cost constraints for molecular testing, an economical working formula is essential to reach a meaningful diagnosis in a resource-limited setting. The aim of this study was to establish a practical algorithmic approach using histology and immunohistochemistry (IHC) in the classification of diffuse gliomas in such a set-up. METHODS: Diffuse gliomas of WHO grade II and III diagnosed in our institute in the year 2016 were analysed for histological and IHC features, using the markers isocitrate dehydrogenase 1 (IDH1R132H) and α thalassemia/mental retardation syndrome X-linked gene (ATRX)...
August 11, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28797501/integrating-morphology-and-genetics-in-the-diagnosis-of-cartilage-tumors
#3
REVIEW
Carlos E de Andrea, Mikel San-Julian, Judith V M G Bovée
Cartilage-forming tumors of bone are a heterogeneous group of tumors with different molecular mechanisms involved. Enchondromas are benign hyaline cartilage-forming tumors of medullary bone caused by mutations in IDH1 or IDH2. Osteochondromas are benign cartilage-capped bony projections at the surface of bone. IDH mutations are also found in dedifferentiated and periosteal chondrosarcoma. A recurrent HEY1-NCOA2 fusion characterizes mesenchymal chondrosarcoma. Molecular changes are increasingly used to improve diagnostic accuracy in chondrosarcomas...
September 2017: Surgical Pathology Clinics
https://www.readbyqxmd.com/read/28782849/diffuse-glioma-rare-homozygous-idh-point-mutation-is-it-an-oncogenetic-mechanism
#4
Angad Singh, Mamta Gurav, Sandeep Dhanavade, Omshree Shetty, Sridhar Epari
Isocitrate dehydrogenase (IDH1/IDH2) mutations in gliomas of WHO grade II/III and secondary glioblastoma are almost always heterozygous missense mutations. Here, we report an extremely rare case of homozygous IDH1R132H mutation in a recurrent WHO grade III anaplastic astrocytoma. The authors here also review the relevant literature for the possible metabolic impact of homozygous IDH1/2 mutations in the gliomagenesis.
August 7, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28768910/sexual-dimorphism-in-glioma-glycolysis-underlies-sex-differences-in-survival
#5
Joseph E Ippolito, Aldrin Kay-Yuen Yim, Jingqin Luo, Prakash Chinnaiyan, Joshua B Rubin
The molecular bases for sex differences in cancer remain undefined and how to incorporate them into risk stratification remains undetermined. Given sex differences in metabolism and the inverse correlation between fluorodeoxyglucose (FDG) uptake and survival, we hypothesized that glycolytic phenotyping would improve glioma subtyping. Using retrospectively acquired lower-grade glioma (LGG) transcriptome data from The Cancer Genome Atlas (TCGA), we discovered male-specific decreased survival resulting from glycolytic gene overexpression...
August 3, 2017: JCI Insight
https://www.readbyqxmd.com/read/28768481/piil-visualization-of-dna-methylation-and-gene-expression-data-in-gene-pathways
#6
Behrooz Torabi Moghadam, Neda Zamani, Jan Komorowski, Manfred Grabherr
BACKGROUND: DNA methylation is a major mechanism involved in the epigenetic state of a cell. It has been observed that the methylation status of certain CpG sites close to or within a gene can directly affect its expression, either by silencing or, in some cases, up-regulating transcription. However, a vertebrate genome contains millions of CpG sites, all of which are potential targets for methylation, and the specific effects of most sites have not been characterized to date. To study the complex interplay between methylation status, cellular programs, and the resulting phenotypes, we present PiiL, an interactive gene expression pathway browser, facilitating analyses through an integrated view of methylation and expression on multiple levels...
August 2, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28765916/low-co-expression-of-epidermal-growth-factor-receptor-and-its-chaperone-heat-shock-protein-90-is-associated-with-worse-prognosis-in-primary-glioblastoma-idh-wild-type
#7
Elsa Sartori, Rupert Langer, Erik Vassella, Ekkehard Hewer, Philippe Schucht, Inti Zlobec, Sabina Berezowska
Epidermal growth factor receptor (EGFR) is a major oncogenic driver in glioblastoma (GBM) without mutations in the isocitrate dehydrogenase gene (IDH-wildtype). Heat shock protein 90 (HSP90) is a regulator of the stability of oncogenic proteins including EGFR, thereby acting as a molecular chaperone. We investigated the expression of EGFR and its chaperone HSP90 in GBM, IDH-wildtype. Tissue availability permitted analysis of 237/449 consecutive GBM cases, among them 214 IDH-wildtype (90.3%). The expression of EGFR and HSP90 was analysed by immunohistochemistry on a tissue microarray containing various tumour regions...
August 1, 2017: Oncology Reports
https://www.readbyqxmd.com/read/28765641/hypomethylation-of-cntfr%C3%AE-is-associated-with-proliferation-and-poor-prognosis-in-lower-grade-gliomas
#8
Kun Fan, Xiaowen Wang, Jingwen Zhang, Romela Irene Ramos, Haibo Zhang, Chunjie Li, Dan Ye, Jiansheng Kang, Diego M Marzese, Dave S B Hoon, Wei Hua
Ciliary neurotrophic factor receptor α subunit (CNTFRα) and CNTF play important roles in neuron survival, glial differentiation and brain tumor growth. However, the molecular mechanisms of CNTFRα regulation and its clinical significance in glioma remain largely unknown. Here, we found CNTFRα was overexpressed in lower grade gliomas (LGG) compared with glioblastoma (GBM) and normal brain specimens in TCGA datasets and in an independent cohort. Bioinformatics analysis revealed a CpG shore of the CNTFRα gene regulated its mRNA expression in TCGA datasets...
August 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28752218/predicting-idh-mutation-status-of-intrahepatic-cholangiocarcinomas-based-on-contrast-enhanced-ct-features
#9
Yong Zhu, Jun Chen, Weiwei Kong, Liang Mao, Wentao Kong, Qun Zhou, Zhengyang Zhou, Bin Zhu, Zhongqiu Wang, Jian He, Yudong Qiu
OBJECTIVES: To explore the difference in contrast-enhanced computed tomography (CT) features of intrahepatic cholangiocarcinomas (ICCs) with different isocitrate dehydrogenase (IDH) mutation status. METHODS: Clinicopathological and contrast-enhanced CT features of 78 patients with 78 ICCs were retrospectively analysed and compared based on IDH mutation status. RESULTS: There were 11 ICCs with IDH mutation (11/78, 14.1%) and 67 ICCs without IDH mutation (67/78, 85...
July 27, 2017: European Radiology
https://www.readbyqxmd.com/read/28751449/t2-flair-mismatch-an-imaging-biomarker-for-idh-and-1p-19q-status-in-lower-grade-gliomas-a-tcga-tcia-project
#10
Sohil H Patel, Laila M Poisson, Daniel J Brat, Yueren Zhou, Lee Cooper, Matija Snuderl, Cheddhi Thomas, Ana M Franceschi, Brent Griffith, Adam Flanders, John G Golfinos, Andrew S Chi, Rajan Jain
Lower grade gliomas (WHO grade II/III) have been classified into clinically-relevant molecular subtypes based on IDH and 1p/19q mutation status. The purpose was to investigate whether T2/FLAIR MRI features could distinguish between lower grade glioma molecular subtypes.<br /><br />Experimental Design: MRI scans from the TCGA/TCIA lower grade glioma database (n=125) were evaluated by 2 independent neuroradiologists to assess: 1) presence/absence of homogenous signal on T2WI; 2) presence/absence of "T2-FLAIR mismatch" sign; 3) sharp or indistinct lesion margins; 4) presence/absence of peritumoral edema...
July 27, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28748342/non-canonical-idh1-and-idh2-mutations-a-clonal-and-relevant-event-in-an-italian-cohort-of-gliomas-classified-according-to-the-2016-world-health-organization-who-criteria
#11
Michela Visani, Giorgia Acquaviva, Gianluca Marucci, Alexandro Paccapelo, Antonella Mura, Enrico Franceschi, Daniela Grifoni, Annalisa Pession, Giovanni Tallini, Alba A Brandes, Dario de Biase
According to the 2016 World Health Organization (WHO) classification of tumors of the central nervous system, assessment of exon 4 mutations in isocitrate dehydrogenase 1 or 2 genes (IDH1 or IDH2) is an essential step in the characterization of gliomas. The p.R132H mutation is the most frequent alteration in IDH genes, however other non-canonical IDH mutations can be identified. The aim of this study is to investigate in depth the prevalence of non-R132H IDH ("non-canonical") mutations in brain tumors classified according to the 2016 WHO scheme and their clonal distribution in neoplastic cells...
July 26, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28736630/current-biologics-for-treatment-of-biliary-tract-cancers
#12
REVIEW
Diana Y Zhao, Kian-Huat Lim
Biliary tract cancers (BTC) is a group of malignancies that arise from the epithelial cells of the biliary tree. These cancers are typically classified by anatomic site of origin: intrahepatic cholangiocarcinoma (IHCC) and extrahepatic cholangiocarcinoma (EHCC), and gallbladder cancer (GBC). To date, complete surgical resection remains the mainstay of treatment especially for earlier stage disease. Unfortunately, most patients present with advanced or metastatic disease, when systemic chemotherapy is the only treatment option...
June 2017: Journal of Gastrointestinal Oncology
https://www.readbyqxmd.com/read/28735490/measurement-of-oncometabolites-d-2-hydroxyglutaric-acid-and-l-2-hydroxyglutaric-acid
#13
Patricia M Jones, Richard Boriack, Eduard A Struys, Dinesh Rakheja
We describe a liquid chromatography-tandem mass spectrometry assay for measurement of D-2-hydroxyglutaric acid and L-2-hydroxyglutaric acid. These metabolites are increased in specific inborn errors of metabolism and are now recognized as oncometabolites. The measurement of D-2-hydroxyglutarate in peripheral blood may be used as a biomarker for screening and follow-up of patients with IDH-mutated acute myeloid leukemia.
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28729418/myc-regulated-mevalonate-metabolism-maintains-brain-tumor-initiating-cells
#14
Xiuxing Wang, Zhi Huang, Qiulian Wu, Briana C Prager, Stephen C Mack, Kailin Yang, Leo J Y Kim, Ryan C Gimple, Yu Shi, Sisi Lai, Qi Xie, Tyler E Miller, Christopher G Hubert, Anne Song, Zhen Dong, Wenchao Zhou, Xiaoguang Fang, Zhe Zhu, Vaidehi Mahadev, Shideng Bao, Jeremy N Rich
Metabolic dysregulation drives tumor initiation in a subset of glioblastomas harboring isocitrate dehydrogenase (IDH) mutations, but metabolic alterations in glioblastomas with wildtype IDH are poorly understood. MYC promotes metabolic reprogramming in cancer, but targeting MYC has proven notoriously challenging. Here, we link metabolic dysregulation in patient-derived brain tumor initiating cells (BTICs) to a nexus between MYC and mevalonate signaling, which can be inhibited by statin or 6-fluoromevalonate treatment...
July 20, 2017: Cancer Research
https://www.readbyqxmd.com/read/28714279/predicting-idh-mutation-status-in-grade-ii-gliomas-using-amide-proton-transfer-weighted-aptw-mri
#15
Shanshan Jiang, Tianyu Zou, Charles G Eberhart, Maria A V Villalobos, Hye-Young Heo, Yi Zhang, Yu Wang, Xianlong Wang, Hao Yu, Yongxing Du, Peter C M van Zijl, Zhibo Wen, Jinyuan Zhou
PURPOSE: To assess the amide proton transfer-weighted (APTw) MRI features of isocitrate dehydrogenase (IDH)-wildtype and IDH-mutant grade II gliomas and to test the hypothesis that the APTw signal is a surrogate imaging marker for identifying IDH mutation status preoperatively. METHODS: Twenty-seven patients with pathologically confirmed low-grade glioma, who were previously scanned at 3T, were retrospectively analyzed. The Mann-Whitney test was used to evaluate relationships between APTw intensities for IDH-mutant and IDH-wildtype groups, and receiver operator characteristic (ROC) analysis was used to assess the diagnostic performance of APTw...
July 16, 2017: Magnetic Resonance in Medicine: Official Journal of the Society of Magnetic Resonance in Medicine
https://www.readbyqxmd.com/read/28705010/isocitrate-dehydrogenase-mutation-as-a-therapeutic-target-in-gliomas
#16
Catherine H Han, Tracy T Batchelor
Isocitrate dehydrogenases (IDH) are important enzymes that catalyze the oxidative decarboxylation of isocitrate to α-ketoglutarate (α-KG), producing NADPH in the process. More than 80% of low-grade gliomas and secondary glioblastoma (GBM) harbor an IDH mutation. IDH mutations involve the catalytic pocket of the enzyme and lead to a neomorphic ability to produce 2-hydroxyglutarate (2HG) while oxidizing NADPH to NADP+. 2HG is considered as an 'oncometabolite' which is thought to be responsible for many, if not all, biologic effects of IDH mutations...
June 2017: Chinese Clinical Oncology
https://www.readbyqxmd.com/read/28704501/reduced-susceptibility-of-clinical-strains-of-mycobacterium-tuberculosis-to-reactive-nitrogen-species-promotes-survival-in-activated-macrophages
#17
Jonna Idh, Blanka Andersson, Maria Lerm, Johanna Raffetseder, Daniel Eklund, Hanna Woksepp, Jim Werngren, Mikael Mansjö, Tommy Sundqvist, Olle Stendahl, Thomas Schön
BACKGROUND: Drugs such as isoniazid (INH) and pretomanid (PRT), used against Mycobacterium tuberculosis are active partly through generation of reactive nitrogen species (RNS). The aim of this study was to explore variability in intracellular susceptibility to nitric oxide (NO) in clinical strains of M. tuberculosis. METHOD: Luciferase-expressing clinical M. tuberculosis strains with or without INH resistance were exposed to RNS donors (DETA/NO and SIN-1) in broth cultures and bacterial survival was analysed by luminometry...
2017: PloS One
https://www.readbyqxmd.com/read/28696020/complete-durable-response-of-a-pediatric-anaplastic-oligodendroglioma-to-temozolomide-alone-case-report-and-review-of-literature
#18
Caryn Sorge, Rong Li, Sumit Singh, Alyssa T Reddy, David A Solomon, Arie Perry, Gregory K Friedman
Anaplastic oligodendroglioma (AO) is rare in children. Treatment typically consists of varying combinations of surgery, chemotherapy, and radiotherapy. We present a pediatric case of frontal lobe AO with periventricular subcallosal extension and local leptomeningeal involvement. The isocitrate dehydrogenase (IDH) wild-type tumor was MGMT methylated and contained an ATRX mutation, BRAF alteration, and 1p/19q co-deletion; a combination of alterations mostly encountered in pediatric oligodendrogliomas. The patient underwent a near total resection and had a complete, durable response to temozolomide alone, suggesting that conservative management without radiation may be appropriate in some cases...
July 11, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28679024/multi-pronged-proteomic-analysis-to-study-the-glioma-pathobiology-using-cerebrospinal-fluid-samples
#19
Nikita Gahoi, Darpan Malhotra, Aliasgar Moiyadi, Santosh G Varma, Mayuri N Gandhi, Sanjeeva Srivastava
PURPOSE: Gliomas are one of the most aggressive and lethal brain tumors arising from neoplastic transformation of astrocytes and oligodendrocytes. In this study, we have carried out a comprehensive quantitative analysis of proteome level differences in cerebrospinal fluid (CSF) across different grades of gliomas for a better understanding of glioma pathobiology. EXPERIMENTAL DESIGN: Glioma patients were diagnosed by radiology and histochemistry- based analyses. Differential proteomic analysis of high (n = 12) and low (n = 8) grade gliomas, and control (n = 3) samples was performed by using two complementary quantitative proteomic approaches; 2D-DIGE and iTRAQ...
July 5, 2017: Proteomics. Clinical Applications
https://www.readbyqxmd.com/read/28674742/characterization-of-gliomas-from-morphology-to-molecules
#20
Sean P Ferris, Jeffrey W Hofmann, David A Solomon, Arie Perry
This article reviews the histologic and molecular characterization of gliomas, including the new "integrated diagnoses" of the World Health Organization Classification, 2016 edition. The entities reviewed within include diffuse gliomas (astrocytoma, oligodendroglioma, glioblastoma), as well as circumscribed and low-grade gliomas (angiocentric glioma, pilocytic astrocytoma, subependymal giant cell astrocytoma, pleomorphic xanthoastrocytoma, pilomyxoid astrocytoma, ependymoma, myxopapillary ependymoma, and subependymoma)...
July 4, 2017: Virchows Archiv: An International Journal of Pathology
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