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https://www.readbyqxmd.com/read/29339836/the-role-of-metabolic-enzymes-in-mesenchymal-tumors-and-tumor-syndromes-genetics-pathology-and-molecular-mechanisms
#1
REVIEW
Inga-Marie Schaefer, Jason L Hornick, Judith V M G Bovée
The discovery of mutations in genes encoding the metabolic enzymes isocitrate dehydrogenase (IDH), succinate dehydrogenase (SDH), and fumarate hydratase (FH) has expanded our understanding not only of altered metabolic pathways but also epigenetic dysregulation in cancer. IDH1/2 mutations occur in enchondromas and chondrosarcomas in patients with the non-hereditary enchondromatosis syndromes Ollier disease and Maffucci syndrome and in sporadic tumors. IDH1/2 mutations result in excess production of the oncometabolite (D)-2-hydroxyglutarate...
January 16, 2018: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/29335518/recurrence-patterns-after-maximal-surgical-resection-and-postoperative-radiotherapy-in-anaplastic-gliomas-according-to-the-new-2016-who-classification
#2
Jung Ho Im, Je Beom Hong, Se Hoon Kim, Junjeong Choi, Jong Hee Chang, Jaeho Cho, Chang-Ok Suh
We assessed the appropriateness of current radiotherapy volume for WHO grade III gliomas. The records of 73 patients with WHO grade III gliomas who received postoperative radiotherapy between 2001 and 2013 were retrospectively reviewed. Based on the 2016 WHO classification, 25/73 (34.2%) patients had anaplastic oligodendroglioma (AO), IDH-mutant and 1p/19q-codeleted; 11/73 (15.1%) patients had anaplastic astrocytoma, IDH-mutant; and 37/73 (50.7%) patients had anaplastic astrocytoma, IDH-wildtype. The extent of resection (EOR) was total in 43 patients (58...
January 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29331887/idh1r132h-promotes-malignant-transformation-of-benign-prostatic-epithelium-by-dysregulating-micrornas-involvement-of-igf1r-akt-stat3-signaling-pathway
#3
Lili Zhang, Mei Qi, Tingting Feng, Jing Hu, Lin Wang, Xinjun Li, Wei Gao, Hui Liu, Meng Jiao, Zhen Wu, Xinnuo Bai, Yifan Bie, Long Liu, Bo Han
Risk stratification using molecular features could potentially help distinguish indolent from aggressive prostate cancer (PCa). Mutations in isocitrate dehydrogenase (IDH) acquire an abnormal enzymatic activity, resulting in the production of 2-hydroxyglutarate and alterations in cellular metabolism, histone modification, and DNA methylation. Mutant IDH1 has been identified in various human malignancies, and IDH1R132H constituted the vast majority of mutational events of IDH1. Most recent studies suggested that IDH1 mutations define a methylator subtype in PCa...
January 11, 2018: Neoplasia: An International Journal for Oncology Research
https://www.readbyqxmd.com/read/29315915/a-comparison-of-2-hydroxyglutarate-detection-at-3-and-7%C3%A2-t-with-long-te-semi-laser
#4
Adam Berrington, Natalie L Voets, Sarah J Larkin, Nick de Pennington, James Mccullagh, Richard Stacey, Christopher J Schofield, Peter Jezzard, Stuart Clare, Tom Cadoux-Hudson, Puneet Plaha, Olaf Ansorge, Uzay E Emir
Abnormally high levels of the 'oncometabolite' 2-hydroxyglutarate (2-HG) occur in many grade II and III gliomas, and correlate with mutations in the genes of isocitrate dehydrogenase (IDH) isoforms. In vivo measurement of 2-HG in patients, using magnetic resonance spectroscopy (MRS), has largely been carried out at 3 T, yet signal overlap continues to pose a challenge for 2-HG detection. To combat this, several groups have proposed MRS methods at ultra-high field (≥7 T) where theoretical increases in signal-to-noise ratio and spectral resolution could improve 2-HG detection...
January 5, 2018: NMR in Biomedicine
https://www.readbyqxmd.com/read/29297493/the-genomics-of-prostate-cancer-emerging-understanding-with-technologic-advances
#5
Mark A Rubin, Francesca Demichelis
With the advent of next-generation sequencing technologies and large whole-exome and genome studies in prostate and other cancers, our understanding of the landscape of genomic alterations has dramatically been refined. In additional to well-known alterations in genomic regions involving 8p, 8q, 10q23, common ETS translocations and androgen receptor amplifications, newer technology have uncovered recurrent mutations in SPOP, FOXA1, MED12, IDH and complex large scale genomic alterations (eg, chromoplexy). This review surveys the enhanced landscape of genomic alterations in clinically localized and advanced prostate cancer...
January 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29287025/2-hydroxyglutarate-detection-by-short-echo-time-magnetic-resonance-spectroscopy-in-routine-imaging-study-of-brain-glioma-at-3-0-t
#6
Girolamo Crisi, Silvano Filice, Maria Michiara, Pellegrino Crafa, Silvia Lana
OBJECTIVE: The objective of this study was to assess the effective performance of short echo time magnetic resonance spectroscopy (short TE MRS) for 2HG detection as biomarker of isocitrate dehydrogenase (IDH) status in all grade glioma (GL). METHODS: A total of 82 GL patients were prospectively investigated by short TEMRS at 3.0 T as part of a multimodal magnetic resonance imaging study protocol. Spectral analysis was performed using linear combination model. Tumor specimens were diagnosed as IDH mutant or wild type according to the 2016 World Health Organization (WHO) classification of brain tumors...
December 28, 2017: Journal of Computer Assisted Tomography
https://www.readbyqxmd.com/read/29278535/the-most-novel-of-the-novel-agents-for-acute-myeloid-leukemia
#7
Alexander E Perl
PURPOSE OF REVIEW: Precious few drugs were successfully developed for acute myeloid leukemia (AML) over the past few decades, despite a dramatic expansion of our understanding of its molecular underpinnings during this time. Then in 2017, a wave of new drugs suddenly became approved. This review serves to introduce the newly available drugs, discuss their impact upon therapy, and highlight additional novel agents that are waiting in the wings. RECENT FINDINGS: Newly approved agents in AML include a tyrosine kinase inhibitor for patients with FMS-like tyrosine kinase 3 mutations, an inhibitor of mutant isocitrate dehydrogenase (IDH)2, and two novel agents using antibody-delivered or liposome-delivered cytotoxics...
December 22, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/29278425/genomic-perturbations-reveal-distinct-regulatory-networks-in-intrahepatic-cholangiocarcinoma
#8
Chirag Nepal, Colm J O'Rourke, Douglas Vnp Oliveira, Andrzej Taranta, Steven Shema, Prson Gautam, Julien Calderaro, Andrew Barbour, Chiara Raggi, Krister Wennerberg, Xin W Wang, Anja Lautem, Lewis R Roberts, Jesper B Andersen
Intrahepatic cholangiocarcinoma (iCCA) remains a highly heterogeneous malignancy that has eluded effective patient stratification to date. The extent to which such heterogeneity can be influenced by individual driver mutations remains to be evaluated. Here, we analyzed genomic (whole-exome sequencing, targeted exome sequencing) and epigenomic data from 496 patients, and used the three most recurrently mutated genes to stratify patients (IDH, KRAS, TP53, 'undetermined'). Using this molecular dissection approach, each subgroup was determined to possess unique mutational signature preferences, co-mutation profiles and enriched pathways...
December 26, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/29274619/circulating-oncometabolite-d-2-hydroxyglutarate-enantiomer-is-a-surrogate-marker-of-isocitrate-dehydrogenase-mutated-intrahepatic-cholangiocarcinomas
#9
Julia Delahousse, Loic Verlingue, Sophie Broutin, Clémence Legoupil, Mehdi Touat, Ludovic Doucet, Samy Ammari, Ludovic Lacroix, Michel Ducreux, Jean-Yves Scoazec, David Malka, Angelo Paci, Antoine Hollebecque
Therapeutic resources are limited for advanced biliary tract cancers and prognosis remains poor. Somatic mutations in isocitrate dehydrogenase (IDH)1/2 gene are found in 5-36% of patients with intrahepatic cholangiocarcinoma (ICC). The mutant forms of IDH1/2 catalyse the non-reversible accumulation of 2-hydroxyglutarate (2HG). Increasing numbers of indirect or direct-targeted therapies are developed to IDH1/2 mutations and could be assisted by a routinely feasible, rapid and inexpensive serum 2HG measurement by liquid chromatography coupled to tandem mass spectrometry...
December 20, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/29274134/a-distinct-immunophenotype-identifies-a-subset-of-npm1-mutated-aml-with-tet2-or-idh1-2-mutations-and-improved-outcome
#10
Emily F Mason, Frank C Kuo, Robert P Hasserjian, Adam C Seegmiller, Olga Pozdnyakova
Recent work has identified distinct molecular subgroups of acute myeloid leukemia (AML) with implications for disease classification and prognosis. NPM1 is one of the most common recurrently mutated genes in acute myeloid leukemia (AML). NPM1 mutations often co-occur with FLT3-ITDs and mutations in genes regulating DNA methylation, such as DNMT3A, TET2, and IDH1/2. It remains unclear whether these genetic alterations are associated with distinct immunophenotypic findings or affect prognosis. We identified 133 cases of NPM1-mutated AML and correlated sequencing data with immunophenotypic and clinical findings...
December 23, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/29261348/mri-features-and-idh-mutational-status-of-grade-ii-diffuse-gliomas-impact-on-diagnosis-and-prognosis
#11
Javier E Villanueva-Meyer, Matthew D Wood, Byung Se Choi, Marc C Mabray, Nicholas A Butowski, Tarik Tihan, Soonmee Cha
OBJECTIVE: Grade II diffuse gliomas (DGs) with isocitrate dehydrogenase (IDH) mutations are associated with better prognosis than their IDH wild-type counterparts. We sought to determine the MRI characteristics associated with IDH mutational status and ascertain whether MRI considered in combination with IDH mutational status can better predict the clinical outcomes of grade II DGs. MATERIALS AND METHODS: Preoperative MRI examinations were retrospectively studied for qualitative tumor characteristics, including location, extent, cortical involvement, margin sharpness, cystic component, mineralization or hemorrhage, and contrast enhancement...
December 20, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/29258767/immunohistochemical-comparative-analysis-of-gfap-map-2-nogo-a-olig-2-and-wt-1-expression-in-who-2016-classified-neuroepithelial-tumours-and-their-prognostic-value
#12
David Emanuel Schwab, Guilherme Lepski, Christian Borchers, Katrin Trautmann, Frank Paulsen, Jens Schittenhelm
Immunohistochemistry is routinely used in differential diagnosis of tumours of the central nervous system (CNS). The latest 2016 WHO 2016 revision now includes molecular data such as IDH mutation and 1p/19q codeletion thus restructuring glioma classification. Direct comparative information between commonly used immunohistochemical markers for glial tumours GFAP, MAP - 2, NOGO - A, OLIG - 2 and WT - 1 concerning quality and quantity of expression and their relation to the new molecular markers are lacking. We therefore compared the immunohistochemical staining results of all five antibodies in 34 oligodendrogliomas, 106 ependymomas and 423 astrocytic tumours...
December 14, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/29221210/the-molecular-classification-of-astrocytic-tumors
#13
Chen-Xue Mao, Ji-Ye Yin, Ying Zhang, Zhi-Bin Wang, Zhi-Quan Yang, Zheng-Wen He, Xiang-Min Li, Xiao-Yuan Mao, Ru-Tao Cui, Xue-Jun Li, Xi Li, Wei Zhang, Hong-Hao Zhou, Zhao-Qian Liu
Aim: This study will explore the genetic and epigenetic alterations in astrocytomas, and identify the critical molecular signatures and signaling pathways for prognosis assessment by multiplatform comprehensive analysis. Method: We performed integration analyses of incorporating DNA methylation, mRNA expression, microRNA expression, and long non-coding RNA (lncRNA) expression in 33 astrocytic tumor tissues and 9 non-tumor brain tissues. Result: We observed that 11,795 DNA methylation sites, 3,627 genes, 136 microRNAs, and 3,334 lncRNAs were significantly differential between tumors and non-tumor brain tissues, and the filtered signatures through comprehensive analysis were significantly enriched in calcium signaling pathway...
November 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29220731/quantitative-texture-analysis-in-the-prediction-of-idh-status-in-low-grade-gliomas
#14
Asgeir Store Jakola, Yi-Hua Zhang, Anne J Skjulsvik, Ole Solheim, Hans Kristian Bø, Erik Magnus Berntsen, Ingerid Reinertsen, Sasha Gulati, Petter Förander, Torkel B Brismar
OBJECTIVES: Molecular markers provide valuable information about treatment response and prognosis in patients with low-grade gliomas (LGG). In order to make this important information available prior to surgery the aim of this study was to explore if molecular status in LGG can be discriminated by preoperative magnetic resonance imaging (MRI). PATIENTS AND METHODS: All patients with histopathologically confirmed LGG with available molecular status who had undergone a preoperative standard clinical MRI protocol using a 3T Siemens Skyra scanner during 2008-2015 were retrospectively identified...
December 5, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29218432/the-2016-revision-of-the-who-classification-of-central-nervous-system-tumours-retrospective-application-to-a-cohort-of-diffuse-gliomas
#15
Te Whiti Rogers, Gurvinder Toor, Katharine Drummond, Craig Love, Kathryn Field, Rebecca Asher, Alpha Tsui, Michael Buckland, Michael Gonzales
The classification of central nervous system tumours has more recently been shaped by a focus on molecular pathology rather than histopathology. We re-classified 82 glial tumours according to the molecular-genetic criteria of the 2016 revision of the World Health Organization (WHO) Classification of Tumours of the Central Nervous System. Initial diagnoses and grading were based on the morphological criteria of the 2007 WHO scheme. Because of the impression of an oligodendroglial component on initial histological assessment, each tumour was tested for co-deletion of chromosomes 1p and 19q and mutations of isocitrate dehydrogenase (IDH-1 and 2) genes...
December 7, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29217981/mutating-our-understanding-of-brain-tumors-and-seizures-entrez-idh
#16
COMMENT
Jong Woo Lee
No abstract text is available yet for this article.
November 2017: Epilepsy Currents
https://www.readbyqxmd.com/read/29205011/clinical-correlates-of-subventricular-zone-contacting-glioblastomas-a-meta-analysis
#17
Akshitkumar M Mistry
INTRODUCTION: The clinical and molecular correlates of glioblastomas (GBMs) contacting the subventricular zone (SVZ+ GBM) are unknown. We aimed to reveal any such correlates that may help explain their increased GBM malignancy. EVIDENCE ACQUISITION: A meta-analysis was, therefore, conducted to assess whether tumor's MGMT promoter methylation status, IDH mutation status, volume, and extent of resection as well as patients' age at diagnosis and preoperative Karnofsky performance status score (KPS) correlate with SVZ contact by GBM...
December 4, 2017: Journal of Neurosurgical Sciences
https://www.readbyqxmd.com/read/29202474/adhfe1-is-a-breast-cancer-oncogene-and-induces-metabolic-reprogramming
#18
Prachi Mishra, Wei Tang, Vasanta Putluri, Tiffany H Dorsey, Feng Jin, Fang Wang, Donewei Zhu, Lauren Amable, Tao Deng, Shaofei Zhang, J Keith Killian, Yonghong Wang, Tsion Z Minas, Harry G Yfantis, Dong H Lee, Arun Sreekumar, Michael Bustin, Wei Liu, Nagireddy Putluri, Stefan Ambs
Metabolic reprogramming in breast tumors is linked to increases in putative oncogenic metabolites that may contribute to malignant transformation. We previously showed that accumulation of the oncometabolite, 2-hydroxyglutarate (2HG), in breast tumors was associated with MYC signaling, but not with isocitrate dehydrogenase (IDH) mutations, suggesting a distinct mechanism for increased 2HG in breast cancer. Here, we determined that D-2HG is the predominant enantiomer in human breast tumors and show that the D-2HG-producing mitochondrial enzyme, alcohol dehydrogenase, iron-containing protein 1 (ADHFE1), is a breast cancer oncogene that decreases patient survival...
November 27, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29200111/low-grade-gliomas
#19
David Schiff
PURPOSE OF REVIEW: Low-grade gliomas present vexing management issues for neuro-oncologists. The relatively long survival compared to other brain tumors makes consideration of treatment toxicity, and thus timing of potentially damaging interventions such as surgery, radiation, and chemotherapy, crucial. Moreover, the rarity of these tumors makes clinical trials to ascertain optimal care challenging. RECENT FINDINGS: The discovery that most low-grade gliomas harbor isocitrate dehydrogenase (IDH) mutations that confer a favorable prognosis has improved diagnosis and risk stratification of these tumors...
December 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29198322/tert-promoter-mutation-and-its-interaction-with-idh-mutations-in-glioma-combined-tert-promoter-and-idh-mutations-stratifies-lower-grade-glioma-into-distinct-survival-subgroups-a-meta-analysis-of-aggregate-data
#20
REVIEW
Huy Gia Vuong, Ahmed M A Altibi, Uyen N P Duong, Hanh T T Ngo, Thong Quang Pham, Aden Ka-Yin Chan, Chul-Kee Park, Kar-Ming Fung, Lewis Hassell
The clinical significance of telomerase reverse transcriptase (TERT) promoter mutation in glioma remains unclear. The aim of our meta-analysis is to investigate the prognostic impact TERT promoter mutation in glioma patients and its interaction with other molecular markers, particularly Isocitrate Dehydrogenase (IDH) mutation from aggregate level data. Relevant articles were searched in four electronic databases including PubMed, Scopus, Web of Science and Virtual Health Library. Pooled HRs were calculated using random effect model weighted by inverse variance method...
December 2017: Critical Reviews in Oncology/hematology
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