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https://www.readbyqxmd.com/read/29651790/novel-insights-for-inhibiting-mutant-heterodimer-idh1-wt-r132h-in-cancer-an-in-silico-approach
#1
Ezequiel Iván Juritz, Juan Pablo Bascur, Daniel Eduardo Almonacid, Fernando Danilo González-Nilo
BACKGROUND: Isocitrate dehydrogenase 1 (IDH1) is a dimeric enzyme responsible for supplying the cell's nicotinamide adenine dinucleotide phosphate (NADPH) reserves via dehydrogenation of isocitrate (ICT) and reduction of NADP+. Mutations in position R132 trigger cancer by enabling IDH1 to produce D-2-hydroxyglutarate (2-HG) and reduce inhibition by ICT. Mutant IDH1 can be found as a homodimer or a heterodimer. OBJECTIVE: We propose a novel strategy to inhibit IDH1 R132 variants as a means not to decrease the concentration of 2-HG but to provoke a cytotoxic effect, as the cell malignancy at this point no longer depends on 2-HG...
April 12, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29650441/clinical-implications-of-tert-promoter-mutation-on-idh-mutation-and-mgmt-promoter-methylation-in-diffuse-gliomas
#2
Hyun Sik Kim, Mi Jung Kwon, Joon Ho Song, Eun Soo Kim, Ho Young Kim, Kyueng-Whan Min
IDH mutation and MGMT promoter methylation are reliable prognostic and predictive biomarkers in grade II-IV diffuse gliomas. Recurrent mutations in the promoter region of the telomerase reverse transcriptase (TERTp) gene have also been found in diffuse gliomas. However, the prognostic and predictive effects of TERTp mutation on IDH or MGMT status are largely unknown. IDH1/2 and TERTp mutations, as well as MGMT methylation statuses, were examined via peptide nucleic acid-mediated PCR clamping and MGMT methylation-specific PCR in 67 paraffinized tumor samples, respectively...
April 5, 2018: Pathology, Research and Practice
https://www.readbyqxmd.com/read/29643764/the-idh1-mutation-induced-oncometabolite-2-hydroxyglutarate-may-affect-dna-methylation-and-expression-of-pd-l1-in-gliomas
#3
Luyan Mu, Yu Long, Changlin Yang, Linchun Jin, Haipeng Tao, Haitao Ge, Yifan E Chang, Aida Karachi, Paul S Kubilis, Gabriel De Leon, Jiping Qi, Elias J Sayour, Duane A Mitchell, Zhiguo Lin, Jianping Huang
Background: Malignant gliomas are heterogeneous brain tumors with the potential for aggressive disease progression, as influenced by suppressive immunoediting. Given the success and enhanced potential of immune-checkpoint inhibitors in immunotherapy, we focused on the connections between genetic alterations affected by IDH1 mutations and immunological landscape changes and PDL-1 expression in gliomas. Methods: Paired surgically resected tumors from lower-grade gliomas (LGGs) and glioblastomas (GBM) were investigated, and a genetic analysis of patients' primary tumor samples culled from TCGA datasets was performed...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29628799/clinical-and-immunological-correlates-of-long-term-survival-in-glioblastoma
#4
REVIEW
Bartosz Czapski, Szymon Baluszek, Christel Herold-Mende, Bozena Kaminska
Glioblastoma (GBM) is the most common and most aggressive type of primary brain tumour in adults. It represents 54% of all gliomas and 16% of all brain tumours (Ostrom et al. 2016). Despite surgery and treatment with radiotherapy plus an oral alkylating agent, temozolomide (TMZ), tumours invariably recur, and the patient survival is an average of ~14-16 months. In this review we summarise the current understanding of multiple factors that may affect survival of patients with GBMs. In particular, we discuss recent advancements in surgery and detection of genomic-based markers with prognostic values, such as IDH1/2 mutations, MGMT gene promoter methylation, and TERT gene promoter alterations...
March 2018: Contemporary Oncology Współczesna Onkologia
https://www.readbyqxmd.com/read/29628290/the-immune-landscape-of-cancer
#5
Vésteinn Thorsson, David L Gibbs, Scott D Brown, Denise Wolf, Dante S Bortone, Tai-Hsien Ou Yang, Eduard Porta-Pardo, Galen F Gao, Christopher L Plaisier, James A Eddy, Elad Ziv, Aedin C Culhane, Evan O Paull, I K Ashok Sivakumar, Andrew J Gentles, Raunaq Malhotra, Farshad Farshidfar, Antonio Colaprico, Joel S Parker, Lisle E Mose, Nam Sy Vo, Jianfang Liu, Yuexin Liu, Janet Rader, Varsha Dhankani, Sheila M Reynolds, Reanne Bowlby, Andrea Califano, Andrew D Cherniack, Dimitris Anastassiou, Davide Bedognetti, Arvind Rao, Ken Chen, Alexander Krasnitz, Hai Hu, Tathiane M Malta, Houtan Noushmehr, Chandra Sekhar Pedamallu, Susan Bullman, Akinyemi I Ojesina, Andrew Lamb, Wanding Zhou, Hui Shen, Toni K Choueiri, John N Weinstein, Justin Guinney, Joel Saltz, Robert A Holt, Charles E Rabkin, Alexander J Lazar, Jonathan S Serody, Elizabeth G Demicco, Mary L Disis, Benjamin G Vincent, Llya Shmulevich
We performed an extensive immunogenomic analysis of more than 10,000 tumors comprising 33 diverse cancer types by utilizing data compiled by TCGA. Across cancer types, we identified six immune subtypes-wound healing, IFN-γ dominant, inflammatory, lymphocyte depleted, immunologically quiet, and TGF-β dominant-characterized by differences in macrophage or lymphocyte signatures, Th1:Th2 cell ratio, extent of intratumoral heterogeneity, aneuploidy, extent of neoantigen load, overall cell proliferation, expression of immunomodulatory genes, and prognosis...
April 4, 2018: Immunity
https://www.readbyqxmd.com/read/29625108/oncogenic-microrna-20a-is-downregulated-by-the-hif-1%C3%AE-c-myc-pathway-in-idh1-r132h-mutant-glioma
#6
Qingfu Xu, A Karim Ahmed, Yan Zhu, Kimberly Wang, Shengqing Lv, Yunqing Li, Yugang Jiang
Mutations in the isocitrate dehydrogenase 1 (IDH1) gene have been identified as one of the earliest events in gliomagenesis, occurring in over 70% of low grade gliomas and are present in the vast majority of secondary glioblastoma (GBM) that develop from these low-grade lesions. The aim of this study was to investigate whether the IDH1 R132H mutation influences the expression of oncogenic miR-20a and shed light on the underlying molecular mechanisms. The findings of the current study demonstrate presence of the IDH1 R132H mutation in primary human glioblastoma cell lines upregulated HIF-1α expression, which downregulated c-MYC activity, resulting in a consequential decrease in miR-20a-responsible for cell proliferation and resistance to standard temozolomide treatment...
April 3, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29624154/the-diagnostic-accuracy-of-detecting-malignant-transformation-of-low-grade-glioma-using-o-2-18-f-fluoroethyl-l-tyrosine-positron-emission-tomography-a-retrospective-study
#7
Asma Bashir, Jannick Brennum, Helle Broholm, Ian Law
OBJECTIVE The diagnostic accuracy of O-(2-[18 F]fluoroethyl)-l-tyrosine (FET) PET scanning in detecting the malignant transformation of low-grade gliomas (LGGs) is controversial. In this study, the authors retrospectively assessed the diagnostic potential of FET PET in patients with MRI-suspected malignant progression of LGGs that had previously been treated and the relationship between FET uptake and MRI and molecular biomarkers. METHODS Forty-two patients who had previously undergone surgical or multimodal treatment for a histologically verified LGG were referred for FET PET assessment because of clinical signs and/or MRI findings suggestive of tumor progression...
April 6, 2018: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29622865/the-synonymous-isocitrate-dehydrogenase-1-315c-t-snp-confers-an-adverse-prognosis-in-egyptian-adult-patients-with-npm1-cebpa-negative-acute-myeloid-leukemia
#8
Mohamed A M Ali, Emad K Ahmed, Magda M A Assem, Reham Helwa
Although the clinical features of isocitrate dehydrogenase ( IDH ) genetic aberrations have been well-characterized in acute myeloid leukemia (AML), definitive information on their prognostic significance is lacking. We aimed to explore the prognostic significance of IDH gene alterations in an Egyptian cohort of adult patients with de novo AML. Diagnostic peripheral blood samples from 51 AML patients were analyzed for the presence of mutations/SNPs in exon 4 of IDH1 and IDH2 genes using polymerase chain reaction amplification followed by direct sequencing...
April 2018: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/29619216/mutant-idh1-gliomas-downregulate-phosphocholine-and-phosphoethanolamine-synthesis-in-a-2-hydroxyglutarate-dependent-manner
#9
Pavithra Viswanath, Marina Radoul, Jose Luis Izquierdo-Garcia, Hema Artee Luchman, J Gregory Cairncross, Russell O Pieper, Joanna J Phillips, Sabrina M Ronen
Background: Magnetic resonance spectroscopy (MRS) studies have identified elevated levels of the phospholipid precursor phosphocholine (PC) and phosphoethanolamine (PE) as metabolic hallmarks of cancer. Unusually, however, PC and PE levels are reduced in mutant isocitrate dehydrogenase 1 (IDHmut) gliomas that produce the oncometabolite 2-hydroxyglutarate (2-HG) relative to wild-type IDH1 (IDHwt) gliomas. The goal of this study was to determine the molecular mechanism underlying this unusual metabolic reprogramming in IDHmut gliomas...
2018: Cancer & Metabolism
https://www.readbyqxmd.com/read/29618055/malignancy-index-using-intraoperative-flow-cytometry-is-a-valuable-prognostic-factor-for-glioblastoma-treated-with-radiotherapy-and-concomitant-temozolomide
#10
Taiichi Saito, Yoshihiro Muragaki, Takahiro Shioyama, Takashi Komori, Takashi Maruyama, Masayuki Nitta, Takayuki Yasuda, Junji Hosono, Saori Okamoto, Takakazu Kawamata
BACKGROUND: Intraoperative prediction of radiochemosensitivity is desirable for improving the clinical management of glioblastoma (GBM) patients. We have previously developed an original technique for intraoperative flow cytometry (iFC) and defined a malignancy index (MI). OBJECTIVE: To determine whether MI correlates with prognosis in GBM patients who underwent the standard treatment protocol of radiotherapy and temozolomide administration. METHODS: The current study included 102 patients with GBM that had been newly diagnosed from 2010 to 2015 who underwent our iFC analysis and received the standard treatment protocol...
March 30, 2018: Neurosurgery
https://www.readbyqxmd.com/read/29617848/surgery-for-glioblastoma-in-light-of-molecular-markers-impact-of-resection-and-mgmt-promoter-methylation-in-newly-diagnosed-idh-1-wild-type-glioblastomas
#11
Florian Gessler, Joshua D Bernstock, Anne Braczynski, Stephanie Lescher, Peter Baumgarten, Patrick N Harter, Michel Mittelbronn, Tianxia Wu, Volker Seifert, Christian Senft
BACKGROUND: Previous studies addressing the influence of surgery on the outcome of patients with glioblastomas (GBM) have not addressed molecular markers. The value of surgery versus the tumor's major biological markers remains unclear. OBJECTIVE: We investigate the extent of resection as a prognosticator for patients with newly diagnosed primary GBM with the incorporation of molecular diagnostics as per the updated WHO 2016 diagnostic criteria for GBM. METHODS: Patients with newly diagnosed GBM who underwent resection were prospectively included within a database...
March 27, 2018: Neurosurgery
https://www.readbyqxmd.com/read/29615461/molecular-diagnosis-of-diffuse-gliomas-through-sequencing-of-cell-free-circulating-tumour-dna-from-cerebrospinal-fluid
#12
Francisco Martínez-Ricarte, Regina Mayor, Elena Martínez-Sáez, Carlota Rubio-Pérez, Estela Pineda, Esteban Cordero, Marta Cicuéndez, Maria A Poca, Nuria Lopez-Bigas, Santiago Ramón Y Cajal, María Vieito, Joan Carles, Josep Tabernero, Ana Vivancos, Soledad Gallego, Francesc Graus, Juan Sahuquillo, Joan Seoane
PURPOSE: Diffuse gliomas are the most common primary tumour of the brain and include different subtypes with diverse prognosis. The genomic characterization of diffuse gliomas facilitates their molecular diagnosis. The anatomical localization of diffuse gliomas complicates access to tumour specimens for diagnosis, in some cases incurring high-risk surgical procedures and stereotactic biopsies. Recently, cell-free circulating tumour DNA (ctDNA) has been identified in the cerebrospinal fluid (CSF) of patients with brain malignancies...
April 3, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29610069/sparse-representation-based-radiomics-for-the-diagnosis-of-brain-tumors
#13
Guoqing Wu, Yinsheng Chen, Yuanyuan Wang, Jinhua Yu, Xiaofei Lv, Xue Ju, Zhifeng Shi, Liang Chen, Zhongping Chen
Brain tumors are the most common malignant neurologic tumors with the highest mortality and disability rate. Because of the delicate structure of the brain, the clinical use of several commonly used biopsy diagnosis is limited for brain tumors. Radiomics is an emerging technique for noninvasive diagnosis based on quantitative medical image analyses. However, current radiomics techniques are not standardized regarding feature extraction, feature selection, and decision making. In this paper, we propose a sparse representation-based radiomics (SRR) system for the diagnosis of brain tumors...
April 2018: IEEE Transactions on Medical Imaging
https://www.readbyqxmd.com/read/29609578/the-identification-of-h3f3a-mutation-in-giant-cell-tumour-of-the-clivus-and-the-histological-diagnostic-algorithm-of-other-clival-lesions-permit-the-differential-diagnosis-in-this-location
#14
Federica Scotto di Carlo, Giuseppina Divisato, Maurizio Iacoangeli, Teresa Esposito, Fernando Gianfrancesco
BACKGROUND: Giant Cell Tumour of Bone (GCT) is a locally aggressive primary bone tumour that usually occurs at the epiphyses of the long bones of the appendicular skeleton with a tendency to recurrence. Recurrent somatic H3F3A mutations have been described in 92% of GCT cases. GCTs involving the Clivus are extremely rare lesions and less than 15 cases are described in the literature. They represent a surgery challenge and are easily misdiagnosed. Our aim was to reveal if the genetic bases underlying Clival GCTs were the same of GCTs of long bones to improve the diagnosis and treatment...
April 2, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29602769/whole-exome-sequencing-identifies-germline-mutation-in-tp53-and-atrx-in-a-child-with-ge-nomically-aberrant-at-rt-and-her-mother-with-anaplastic-astrocytoma
#15
Kristiina Nordfors, Joonas Haapasalo, Ebrahim Afyounian, Joonas Tuominen, Matti Annala, Sergei Hayrynen, Ritva Karhu, Pauli Helen, Olli Lohi, Matti Nykter, Hannu Haapasalo, Kirsi Granberg
Brain tumors typically arise sporadically and do not affect several family members simultaneously. In the present study, we describe clinical and genetic data from two patients, a mother and her daughter, with familial brain tumors. Exome sequencing revealed a germline missense mutation in the TP53 and ATRX genes in both cases, and a somatic copy-neutral loss of heterozygosity (LOH) in TP53 in both atypical teratoid/rhabdoid tumor (AT/RT) and astrocytoma tumors. ATRX mutation was associated with the loss of ATRX protein expression...
March 30, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29600313/comparison-of-1p-and-19q-status-of-glioblastoma-by-whole-exome-sequencing-array-comparative-genomic-hybridization-and-fluorescence-in-situ-hybridization
#16
Jongmin Sim, Do-Hyun Nam, Yuil Kim, In-Hee Lee, Jung Won Choi, Jason K Sa, Yeon-Lim Suh
According to the 2016 World Health Organization classification of tumors of the central nervous system, detecting 1p/19q co-deletion became essential in clinical neuropathology for gliomas with oligodendroglioma-like morphology. Here, we assessed genomic profiles of glioblastoma in 80 cases including 1p/19q status using fluorescent in situ hybridization (FISH), array-comparative genomic hybridization (aCGH), and/or whole exome sequencing (WES). Paraffin-embedded tumor tissues were subjected to FISH analysis, and the corresponding frozen tissues from the same tumors were evaluated for aCGH and/or WES for 1p/19q co-deletion and other genetic parameters, which included IDH1-R132H, ATRX, TP53, CIC, and NOTCH1 mutations and MGMT methylation status...
March 29, 2018: Medical Oncology
https://www.readbyqxmd.com/read/29599340/myelodysplastic-syndrome-and-sweet-s-syndrome-are-associated-with-a-mutation-in-isocitrate-dehydrogenase-1
#17
Rose Snyder, Tiffany Libby, Patricia Raciti, Bijal Amin, Mark Jacobson, Dinesh Rakheja, Kirsten Fleming, Matthias Bartenstein, Changcheng Zhu, Swati Goel, Amit K Verma, Aditi Shastri
BACKGROUND: Sweet's syndrome (SS) is a febrile neutrophilic dermatosis that has been clinically linked to hematological malignancies, particularly myelodysplastic syndrome (MDS), in a number of case series. Many epigenetic changes underlying MDS have been identified, such as a mutation in the isocitrate dehydrogenase 1 (IDH1) gene, which causes DNA hypermethylation and alteration of a number of genes that lead to leukemogenesis. However, the pathogenesis of malignancy-associated SS is unknown...
April 2018: Anticancer Research
https://www.readbyqxmd.com/read/29596354/a-new-breviane-spiroditerpenoid-from-the-marine-derived-fungus-penicillium-sp-tj403-1
#18
Beiye Yang, Weiguang Sun, Jianping Wang, Shuang Lin, Xiao-Nian Li, Hucheng Zhu, Zengwei Luo, Yongbo Xue, Zhengxi Hu, Yonghui Zhang
Marine-derived fungi are a promising and untapped reservoir for discovering structurally interesting and pharmacologically active natural products. In our efforts to identify novel bioactive compounds from marine-derived fungi, four breviane spiroditerpenoids, including a new compound, brevione O ( 1 ), and three known compounds breviones I ( 2 ), J ( 3 ), and H ( 4 ), together with a known diketopiperazine alkaloid brevicompanine G ( 5 ), were isolated and identified from an ethyl acetate extract of the fermented rice substrate of the coral-derived fungus Penicillium sp...
March 29, 2018: Marine Drugs
https://www.readbyqxmd.com/read/29582271/reduced-hydroxymethylation-characterizes-medulloblastoma-while-tet-and-idh-genes-are-differentially-expressed-within-molecular-subgroups
#19
Karina Bezerra Salomão, Gustavo Alencastro Veiga Cruzeiro, Ricardo Bonfim-Silva, Lenisa Geron, Fernando Ramalho, Fabiano Pinto Saggioro, Luciano Neder Serafini, Daniel Antunes Moreno, Rosane Gomes de Paula Queiroz, Simone Dos Santos Aguiar, Izilda Cardinalli, José Andres Yunes, Silvia Regina Brandalise, Maria Sol Brassesco, Carlos Alberto Scrideli, Luiz Gonzaga Tone
INTRODUCTION: Medulloblastoma (MB) is an embryonal tumour that originates from genetic deregulation of cerebellar developmental pathways and is classified into 4 molecular subgroups: SHH, WNT, group 3, and group 4. Hydroxymethylation levels progressively increases during cerebellum development suggesting a possibility of deregulation in MB pathogenesis. The aim of this study was to investigate global hydroxymethylation levels and changes in TET and IDH gene expression in MB samples compared to control cerebellum samples...
March 26, 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29581779/idh1-2-mutations-predict-shorter-survival-in-chondrosarcoma
#20
Iwona Lugowska, Pawel Teterycz, Michal Mikula, Maria Kulecka, Anna Kluska, Aneta Balabas, Magdalena Piatkowska, Michal Wagrodzki, Andrzej Pienkowski, Piotr Rutkowski, Jerzy Ostrowski
Background . Recent studies have shown that isocitrate dehydrogenase 1/2 ( IDH1/2 )- activating mutations occur in a variety of cancers, including acute myeloid leukaemia, gliomas, and chondrosarcomas (CHS)s. The effect of IDH1/2 mutation on overall survival (OS) has not been reported in CHS. The aim of our study was to assess the prevalence of known cancer-related gene mutations in CHS, as well as their prognostic role in patient survival. Methods . DNA from FFPE samples of 80 patients (F:M- 1:1.3; mean age: 58 years; range 27-86) with histologically confirmed CHS (G1:29; G2:34; G3:17) was subjected to library preparation with the Ion AmpliSeq Cancer Hotspot Panel v2 and sequenced on the PGM Ion Torrent...
2018: Journal of Cancer
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