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Journal articles on the topic 'Isocitrate dehydrogenase 1 (IDH1)'

Author: Grafiati

Published: 4 June 2021

Last updated: 15 February 2022

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1

Sriwidyani, Ni Putu. "Mutasi Isocitrate Dehydrogenase 1 dan 2 pada Glioma." JBN (Jurnal Bedah Nasional) 5, no. 1 (2020): 26. http://dx.doi.org/10.24843/jbn.2021.v05.i01.p05.

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Klasifikasi tumor sistem saraf pusat WHO terakhir didasarkan atas histogenesis tumor dan karakteristik molekuler genetik. Perubahan klasifikasi yang paling signifikan terjadi pada tumor glioma difus yang paling signifikan, yaitu katagori tumor secara garis besar berdasarkan status mutasi isocitrate dehydrogenase (IDH) 1 dan 2. Tulisan ini akan membahas tentang IDH1 dan IDH baik normal maupun mutan, hubungan mutasi IDH1 dan IDH2 dengan prognosis pasien, serta bagaimana penentuan status mutasi IDH1 dan IDH2 dalam diagnosis glioma.

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Sharma, Horrick. "Development of Novel Therapeutics Targeting Isocitrate Dehydrogenase Mutations in Cancer." Current Topics in Medicinal Chemistry 18, no. 6 (2018): 505–24. http://dx.doi.org/10.2174/1568026618666180518091144.

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Isocitrate dehydrogenases 1 and 2 (IDH1 and IDH2) are key metabolic enzymes that catalyze the conversion of isocitrate to α-ketoglutarate (αKG). IDH1 and IDH2 regulate several cellular processes, including oxidative respiration, glutamine metabolism, lipogenesis, and cellular defense against oxidative damage. Mutations in IDH1 and IDH2 have recently been observed in multiple tumors, including gliomas, acute myeloid leukemia, myelodysplastic syndromes, and chondrosarcoma. IDH1 and IDH2 mutations involve a gain in neomorphic activity that catalyzes αKG conversion to (R)-2- hydroxyglutarate ((R)-

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3

Polivka, J., J. Polivka, V. Rohan, et al. "Isocitrate Dehydrogenase-1 Mutations as Prognostic Biomarker in Glioblastoma Multiforme Patients in West Bohemia." BioMed Research International 2014 (2014): 1–5. http://dx.doi.org/10.1155/2014/735659.

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Introduction. Glioblastoma multiforme (GBM) is the most malignant primary brain tumor in adults. Recent whole-genome studies revealed novel GBM prognostic biomarkers such as mutations in metabolic enzyme IDH—isocitrate dehydrogenases (IDH1 and IDH2). The distinctive mutation IDH1 R132H was uncovered to be a strong prognostic biomarker for glioma patients. We investigated the prognostic role of IDH1 R132H mutation in GBM patients in West Bohemia.Methods. The IDH1 R132H mutation was assessed by the RT-PCR in the tumor samples from 45 GBM patients treated in the Faculty Hospital in Pilsen and was

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4

Gross, Stefan, Rob A. Cairns, Mark D. Minden, et al. "Cancer-associated metabolite 2-hydroxyglutarate accumulates in acute myelogenous leukemia with isocitrate dehydrogenase 1 and 2 mutations." Journal of Experimental Medicine 207, no. 2 (2010): 339–44. http://dx.doi.org/10.1084/jem.20092506.

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Mutations in isocitrate dehydrogenase 1 and 2 (IDH1/2), are present in most gliomas and secondary glioblastomas, but are rare in other neoplasms. IDH1/2 mutations are heterozygous, and affect a single arginine residue. Recently, IDH1 mutations were identified in 8% of acute myelogenous leukemia (AML) patients. A glioma study revealed that IDH1 mutations cause a gain-of-function, resulting in the production and accumulation of 2-hydroxyglutarate (2-HG). Genotyping of 145 AML biopsies identified 11 IDH1 R132 mutant samples. Liquid chromatography-mass spectrometry metabolite screening revealed in

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5

Paschka, Peter, Richard F. Schlenk, Verena I. Gaidzik, et al. "IDH1 and IDH2 Mutations Are Frequent Genetic Alterations in Acute Myeloid Leukemia and Confer Adverse Prognosis in Cytogenetically Normal Acute Myeloid Leukemia With NPM1 Mutation Without FLT3 Internal Tandem Duplication." Journal of Clinical Oncology 28, no. 22 (2010): 3636–43. http://dx.doi.org/10.1200/jco.2010.28.3762.

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Purpose To analyze the frequency and prognostic impact of isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) mutations in acute myeloid leukemia (AML). Patients and Methods We studied 805 adults (age range, 16 to 60 years) with AML enrolled on German-Austrian AML Study Group (AMLSG) treatment trials AML HD98A and APL HD95 for mutations in exon 4 of IDH1 and IDH2. Patients were also studied for NPM1, FLT3, MLL, and CEBPA mutations. The median follow-up for survival was 6.3 years. Results IDH mutations were found in 129 patients (16.0%) —IDH1 in 61 patients (7.6%), and IDH2

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Hodges, Tiffany R., Bryan D. Choi, Darell D. Bigner, Hai Yan, and John H. Sampson. "Isocitrate dehydrogenase 1: what it means to the neurosurgeon." Journal of Neurosurgery 118, no. 6 (2013): 1176–80. http://dx.doi.org/10.3171/2013.3.jns122282.

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Isocitrate dehydrogenase 1 (IDH1) mutations have been discovered to be frequent and highly conserved in secondary glioblastoma multiforme and lower-grade gliomas. Although IDH1 mutations confer a unique genotype that has been associated with a favorable prognosis, the role of the mutated IDH1 enzyme and its metabolites in tumor initiation and maintenance remains unresolved. However, given that IDH1 mutations are homogeneously expressed and are limited solely to tumor tissue, targeting this mutation could potentially yield novel treatment strategies for patients with glioblastoma multiforme.

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7

Avellaneda Matteo, Diego, Grace A. Wells, Lucas A. Luna, et al. "Inhibitor potency varies widely among tumor-relevant human isocitrate dehydrogenase 1 mutants." Biochemical Journal 475, no. 20 (2018): 3221–38. http://dx.doi.org/10.1042/bcj20180424.

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Mutations in isocitrate dehydrogenase 1 (IDH1) drive most low-grade gliomas and secondary glioblastomas and many chondrosarcomas and acute myeloid leukemia cases. Most tumor-relevant IDH1 mutations are deficient in the normal oxidization of isocitrate to α-ketoglutarate (αKG), but gain the neomorphic activity of reducing αKG to D-2-hydroxyglutarate (D2HG), which drives tumorigenesis. We found previously that IDH1 mutants exhibit one of two reactivities: deficient αKG and moderate D2HG production (including commonly observed R132H and R132C) or moderate αKG and high D2HG production (R132Q). Her

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8

Rajendran, Vidya. "Structural analysis of oncogenic mutation of isocitrate dehydrogenase 1." Molecular BioSystems 12, no. 7 (2016): 2276–87. http://dx.doi.org/10.1039/c6mb00182c.

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Arginine to histidine mutation at position 132 (R132H) in isocitrate dehydrogenase 1 (IDH1) led to reduced affinity of the respective enzymes for isocitrate and increased affinity for α-ketoglutarate (AKG) and NADPH.

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9

Cairns, Rob A., Javeed Iqbal, François Lemonnier, et al. "IDH2 mutations are frequent in angioimmunoblastic T-cell lymphoma." Blood 119, no. 8 (2012): 1901–3. http://dx.doi.org/10.1182/blood-2011-11-391748.

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Abstract Mutations in isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) occur in most grade 2 and 3 gliomas, secondary glioblastomas, and a subset of acute myelogenous leukemias but have not been detected in other tumor types. The mutations occur at specific arginine residues and result in the acquisition of a novel enzymatic activity that converts 2-oxoglutarate to D-2-hydroxyglutarate. This study reports IDH1 and IDH2 genotyping results from a set of lymphomas, which included a large set of peripheral T-cell lymphomas. IDH2 mutations were identified in approximately 20%

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10

Abbas, Saman, Sanne Lugthart, François G. Kavelaars, et al. "Acquired mutations in the genes encoding IDH1 and IDH2 both are recurrent aberrations in acute myeloid leukemia: prevalence and prognostic value." Blood 116, no. 12 (2010): 2122–26. http://dx.doi.org/10.1182/blood-2009-11-250878.

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Abstract Somatic mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) were recently demonstrated in acute myeloid leukemia (AML), but their prevalence and prognostic impact remain to be explored in large extensively characterized AML series, and also in various other hematologic malignancies. Here, we demonstrate in 893 newly diagnosed cases of AML mutations in the IDH1 (6%) and IDH2 (11%) genes. Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n

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Mellinghoff, Ingo K., Benjamin M. Ellingson, Mehdi Touat, et al. "Ivosidenib in Isocitrate Dehydrogenase 1–Mutated Advanced Glioma." Journal of Clinical Oncology 38, no. 29 (2020): 3398–406. http://dx.doi.org/10.1200/jco.19.03327.

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PURPOSE Diffuse gliomas are malignant brain tumors that include lower-grade gliomas (LGGs) and glioblastomas. Transformation of low-grade glioma into a higher tumor grade is typically associated with contrast enhancement on magnetic resonance imaging. Mutations in the isocitrate dehydrogenase 1 ( IDH1) gene occur in most LGGs (> 70%). Ivosidenib is an inhibitor of mutant IDH1 (mIDH1) under evaluation in patients with solid tumors. METHODS We conducted a multicenter, open-label, phase I, dose escalation and expansion study of ivosidenib in patients with m IDH1 solid tumors. Ivosidenib was ad

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12

Brunner, Andrew M., Seth A. Wander, Donna Neuberg, et al. "Diagnostic Features and 2-Hydroxyglutarate (2-HG) Levels Among Acute Myeloid Leukemia (AML) Patients with and without Isocitrate Dehydrogenase (IDH) Mutations." Blood 124, no. 21 (2014): 1045. http://dx.doi.org/10.1182/blood.v124.21.1045.1045.

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Abstract Mutations in genes encoding isocitrate dehydrogenase 1/2 (IDH 1/2) enzymes result in increased 2-hydroxyguterate (2-HG) levels, which may provide a non-invasive marker of disease in IDH-mutant AML. The purpose of this study was to characterize patients with IDH-mutant AML by assessing presenting features, concurrent mutations, and 2-HG levels. From 7-2011 through 6-2014, we identified 170 consecutive patients with newly diagnosed AML and measured 2-HG by liquid chromatography-tandem mass spectrometry in serum, urine, marrow aspirate, and marrow pellet samples. All patients had IDH1 R1

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Idris, Tagwa, Maggie Barghash, Aikaterini Kotrotsou, et al. "CT-based radiogenomic signature to identify isocitrate dehydrogenase (IDH)1/2 mutations in advanced intrahepatic cholangiocarcinoma." Journal of Clinical Oncology 37, no. 15_suppl (2019): 4081. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.4081.

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4081 Background: IDH1/2 mutations have a high prevalence (20%) in intrahepatic cholangiocarcinoma (iCCA) and can be associated with therapeutic benefit from IDH inhibitors. Radiomics, a developing field within imaging, has shown its ability to discriminate between tumors of distinct genomic profiles and mutational status. Methods: We developed a radiogenomic signature to robustly predict IDH1/2 mutation status (mutated versus wild-type [WT]) in 22 patients with iCCA using the pretreatment CT scans. The triphasic hepatic CT scan was used to segment the lesion. After semiautomatic segmentation o

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Molenaar, Remco, Srinivasa Reddy Sanikommu, Bhumika J. Patel, et al. "Whole-Exome Sequencing Identifies Germline IDH2 and IDH3 mutations That Predispose to Myeloid Neoplasms." Blood 126, no. 23 (2015): 1405. http://dx.doi.org/10.1182/blood.v126.23.1405.1405.

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Abstract Background: Somatic mutations in isocitrate dehydrogenases 1 and 2 (IDH1/2MT) occur in up to 20% of certain types of myeloid neoplasms, chiefly MDS, MDS/MPN overlap and AML. These mutations induce a metabolic rewiring of cancer cells that affects alpha-ketoglutarate (aKG)-dependent dioxygenases such as TET2 DNA demethylases and Jumanji histone demethylases, which leads to global DNA and chromatin hypermethylation and leukemogenesis. In addition to somatic IDH1/2MT, germline IDH1/2MT occur in the context of Ollier and Maffucci syndromes which predispose to cartilaginous tumors and D 2H

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Lasho, Terra, Alexander Tischer, Guadalupe Belen Antelo, et al. "Functional Interrogation of Variants of Undetermined Significance of the Isocitrate Dehydrogenase 1 and 2 Genes in Myeloid Neoplasms." Blood 134, Supplement_1 (2019): 1697. http://dx.doi.org/10.1182/blood-2019-128067.

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Introduction: Isocitrate dehydrogenase 1 and 2 (IDH1/2) are metabolic enzymes in the citric acid cycle, producing alpha-ketoglutarate (αKG). Mutations in specific regions of these genes have been characterized in gliomas, AML and chronic myeloid neoplasms such as MDS and MPN. These mutations produce an oncometabolite 2-hydroxyglutarate (2HG) that disrupts the epigenetic phenotype of myeloid cells promoting oncogenesis. While this process has been characterized for arginine hot spot (R132/R140) mutations, there exist variants of unclear significance (IDHVUS), with potential pathogenic predictio

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Aibaidula, Abudumijiti, Wang Zhao, Jin-song Wu, et al. "Microfluidics for rapid detection of isocitrate dehydrogenase 1 mutation for intraoperative application." Journal of Neurosurgery 124, no. 6 (2016): 1611–18. http://dx.doi.org/10.3171/2015.4.jns141833.

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OBJECT Conventional methods for isocitrate dehydrogenase 1 (IDH1) detection, such as DNA sequencing and immunohistochemistry, are time- and labor-consuming and cannot be applied for intraoperative analysis. To develop a new approach for rapid analysis of IDH1 mutation from tiny tumor samples, this study used microfluidics as a method for IDH1 mutation detection. METHODS Forty-seven glioma tumor samples were used; IDH1 mutation status was investigated by immunohistochemistry and DNA sequencing. The microfluidic device was fabricated from polydimethylsiloxane following standard soft lithography.

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Maggioni, Giulia, Cristina Astrid Tentori, Maria Teresa Voso, et al. "Acute Myeloid Leukemia with Isocitrate Dehydrogenases (IDH) 1 and 2 Mutations. a Real-World Study from the European IDH Research Group." Blood 136, Supplement 1 (2020): 30–31. http://dx.doi.org/10.1182/blood-2020-140494.

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Introduction. Mutations in genes encoding the metabolic enzymes isocitrate dehydrogenase (IDH) 1 and 2 are found in 10-20% of patients with acute myeloid leukemia (AML). Recently, IDH inhibitors have shown good clinical response in patient's refractory to standard treatments, providing evidence for a new treatment paradigm. Comprehensive real-world studies are needed to explore genotype-to-phenotype correlations and prognosis of IDH mutated AML, which may influence targeted treatment strategies. Patients. From a retrospective, European, real-word population (ClinicalTrials.gov Identifier: NCT0

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Goyal, Lipika, Darrell R. Borger, Thomas Yau, et al. "Circulating oncometabolite 2-hydroxyglutarate (2HG) as a potential surrogate biomarker in patients with isocitrate dehydrogenase mutant (IDHm) intrahepatic cholangiocarcinoma (ICC)." Journal of Clinical Oncology 31, no. 15_suppl (2013): 4125. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.4125.

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4125 Background: Mutations in the genes encoding for IDH1 and IDH2 occur in ~20% of ICC patients (pts), and they lead to the production of the oncometabolite 2HG. We examined whether serum 2HG levels in IDHm ICC pts may 1) serve as a surrogate biomarker for IDH status, 2) correlate with tumor burden, and 3) correlate with circulating proangiogenic biomarkers. Methods: Blood samples from 33 ICC pts [11 IDHm, 22 IDH wild-type (IDHwt)] of different AJCC stages from MGH and 39 surgically resected ICC patients (7 IDHm, 32 IDHwt) from HKU were analyzed for serum 2HG concentration by reverse-phase li

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Hsieh, Jason K., Christopher S. Hong, Sunil Manjila, et al. "An IDH1-mutated primary gliosarcoma: case report." Journal of Neurosurgery 126, no. 2 (2017): 476–80. http://dx.doi.org/10.3171/2016.2.jns151482.

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The authors present the case of a primary gliosarcoma with an isocitrate dehydrogenase-1 (IDH1) mutation. A 75-year-old man presented with a 3-day history of multiple focal seizures and was found on MRI to have a 2.2-cm left parietal enhancing mass lesion. Brain MRI for tremor performed 8 years prior to this presentation was normal. En bloc resection revealed a high-grade glioma with sarcomatous components that was immunoreactive for the R132H variant of IDH1 by antibody. Gliosarcoma is a rare variant of glioblastoma that arises most frequently as a primary tumor, and has equal or worse surviv

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Hao, Shuyu, Christopher S. Hong, Jie Feng, et al. "Somatic IDH1 mutation in a pituitary adenoma of a patient with Maffucci syndrome." Journal of Neurosurgery 124, no. 6 (2016): 1562–67. http://dx.doi.org/10.3171/2015.4.jns15191.

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Maffucci syndrome is a rare disease characterized by multiple enchondromas and soft-tissue hemangiomas. Additionally, neuroendocrine tumors including pituitary adenomas have been described in these patients. The underlying genetic etiology lies in somatic mosaicism of mutations in isocitrate dehydrogenase 1 (IDH1) or isocitrate dehydrogenase 2 (IDH2). This report describes a patient with Maffucci syndrome who presented with intracranial tumors of the skull base and suprasellar region. The patient underwent resection of both intracranial tumors, revealing histopathological diagnoses of chondros

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Tabei, Yusuke, Keiichi Kobayashi, Kuniaki Saito, et al. "Survival in patients with glioblastoma at a first progression does not correlate with isocitrate dehydrogenase (IDH)1 gene mutation status." Japanese Journal of Clinical Oncology 51, no. 1 (2020): 45–53. http://dx.doi.org/10.1093/jjco/hyaa162.

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Abstract Backgrounds Mutations in the isocitrate dehydrogenase (IDH)1 gene are favourable prognostic factors in newly diagnosed diffuse gliomas, whereas it remains controversial in the recurrent glioblastoma setting. Methods A total of 171 patients with newly diagnosed glioblastoma, either ‘primary’ glioblastoma or ‘secondary’ glioblastoma, treated at Kyorin University Hospital or Japanese Red Cross Medical Center from 2000 to 2015 were included. Patients with confirmed IDH1 status and O6-methylguanine-DNA methyltransferase promoter methylation status were retrospectively analysed for overall

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Bruce-Brand, Cassandra, and Dhirendra Govender. "Gene of the month: IDH1." Journal of Clinical Pathology 73, no. 10 (2020): 611–15. http://dx.doi.org/10.1136/jclinpath-2020-206813.

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Isocitrate dehydrogenase 1 (IDH1) encodes a protein which catalyses the oxidative decarboxylation of isocitrate to α-ketoglutarate. Mutant IDH1 favours the production of 2-hydroxyglutarate, an oncometabolite with multiple downstream effects which promote tumourigenesis. IDH1 mutations have been described in a number of neoplasms most notably low-grade diffuse gliomas, conventional central and periosteal cartilaginous tumours and cytogenetically normal acute myeloid leukaemia. Post zygotic somatic mutations of IDH1 characterise the majority of cases of Ollier disease and Maffucci syndrome. IDH1

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Idle, Jeffrey R., Katja Seipel, Ulrike Bacher, Thomas Pabst, and Diren Beyoğlu. "(2R,3S)-Dihydroxybutanoic Acid Synthesis as a Novel Metabolic Function of Mutant Isocitrate Dehydrogenase 1 and 2 in Acute Myeloid Leukemia." Cancers 12, no. 10 (2020): 2842. http://dx.doi.org/10.3390/cancers12102842.

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Acute myeloid leukemia (AML) frequently harbors mutations in isocitrate 1 (IDH1) and 2 (IDH2) genes, leading to the formation of the oncometabolite (2R)-hydroxyglutaric acid (2R-HG) with epigenetic consequences for AML proliferation and differentiation. To investigate if broad metabolic aberrations may result from IDH1 and IDH2 mutations in AML, plasma metabolomics was conducted by gas chromatography–mass spectrometry (GC–MS) on 51 AML patients, 29 IDH1/2 wild-type (WT), 9 with IDH1R132, 12 with IDH2R140 and one with IDH2R172 mutations. Distinct metabolic differences were observed between IDH1

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Brooks, Eric, Xiang Wu, Art Hanel, et al. "Identification and Characterization of Small-Molecule Inhibitors of the R132H/R132H Mutant Isocitrate Dehydrogenase 1 Homodimer and R132H/Wild-Type Heterodimer." Journal of Biomolecular Screening 19, no. 8 (2014): 1193–200. http://dx.doi.org/10.1177/1087057114541148.

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Recurrent genetic mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) have been identified in multiple tumor types. The most frequent mutation, IDH1 R132H, is a gain-of-function mutation resulting in an enzyme-catalyzing conversion of α-ketoglutarate (α-KG) to 2-hydroxyglutarate (2-HG). A high-throughput assay quantifying consumption of NADPH by IDH1 R132H has been optimized and implemented to screen 3 million compounds in 1536-well formats. The primary high-throughput screening hits were further characterized by RapidFire–mass spectrometry measuring 2-HG directly. Multiple distinct

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Lee, Wen-Yuan, Kuan-Chung Chen, Hsin-Yi Chen, and Calvin Yu-Chian Chen. "Potential Mitochondrial Isocitrate Dehydrogenase R140Q Mutant Inhibitor from Traditional Chinese Medicine against Cancers." BioMed Research International 2014 (2014): 1–10. http://dx.doi.org/10.1155/2014/364625.

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A recent research of cancer has indicated that the mutant of isocitrate dehydrogenase 1 and 2 (IDH1and2) genes will induce various cancers, including chondrosarcoma, cholangiocarcinomas, and acute myelogenous leukemia due to the effect of point mutations in the active-site arginine residues of isocitrate dehydrogenase (IDH), such as IDH1/R132, IDH2/R140, and IDH2/R172. As the inhibition for those tumor-associated mutant IDH proteins may induce differentiation of those cancer cells, these tumor-associated mutant IDH proteins can be treated as a drug target proteins for a differentiation therapy

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Boutzen, Héléna, Estelle Saland, Clément Larrue, et al. "Isocitrate dehydrogenase 1 mutations prime the all-trans retinoic acid myeloid differentiation pathway in acute myeloid leukemia." Journal of Experimental Medicine 213, no. 4 (2016): 483–97. http://dx.doi.org/10.1084/jem.20150736.

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Acute myeloid leukemia (AML) is characterized by the accumulation of malignant blasts with impaired differentiation programs caused by recurrent mutations, such as the isocitrate dehydrogenase (IDH) mutations found in 15% of AML patients. These mutations result in the production of the oncometabolite (R)-2-hydroxyglutarate (2-HG), leading to a hypermethylation phenotype that dysregulates hematopoietic differentiation. In this study, we identified mutant R132H IDH1-specific gene signatures regulated by key transcription factors, particularly CEBPα, involved in myeloid differentiation and retino

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Vijayan, Poornima, Laila Ilias, and Anupama Ponniah. "Isocitrate dehydrogenase 1and 2 gene mutation status– a critical parameter in the diagnosis and prognosis of adult gliomas." Journal of Pathology of Nepal 11, no. 1 (2021): 1881–85. http://dx.doi.org/10.3126/jpn.v11i1.28992.

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Isocitrate dehydrogenase 1 and 2 mutations are known to be early events in gliomagenesis and have a definite role in tumor progression.Isocitrate dehydrogenase1/2 mutation status is considered to be one of the most powerful independent positive predictor of outcome amongst all molecular markers described in association with gliomas. The inclusion of this parameter in the 2016 update of the World Health Organization Classification of Tumors of The Central Nervous System reinforced its importance in glioma classification and prognostication. As a result, now there is enough evidence to prove tha

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Bendahou, Mohammed Amine, Housna Arrouchi, Wiame Lakhlili, et al. "Computational Analysis of IDH1, IDH2, and TP53 Mutations in Low-Grade Gliomas Including Oligodendrogliomas and Astrocytomas." Cancer Informatics 19 (January 2020): 117693512091583. http://dx.doi.org/10.1177/1176935120915839.

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Introduction: The emergence of new omics approaches, such as genomic algorithms to identify tumor mutations and molecular modeling tools to predict the three-dimensional structure of proteins, has facilitated the understanding of the dynamic mechanisms involved in the pathogenesis of low-grade gliomas including oligodendrogliomas and astrocytomas. Methods: In this study, we targeted known mutations involved in low-grade gliomas, starting with the sequencing of genomic regions encompassing exon 4 of isocitrate dehydrogenase 1 ( IDH1) and isocitrate dehydrogenase 2 ( IDH2) and the four exons (5-

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Kövy, Petra, Zoltán Őrfi, András Bors, et al. "Nucleophosmin1 and isocitrate dehydrogenase 1 and 2 as measurable residual disease markers in acute myeloid leukemia." PLOS ONE 16, no. 6 (2021): e0253386. http://dx.doi.org/10.1371/journal.pone.0253386.

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Monitoring measurable residual disease (MRD) in acute myeloid leukemia (AML) plays an important role in predicting relapse and outcome. The applicability of the leukemia-initiating nucleophosmin1 (NPM1) gene mutations in MRD detection is well-established, while that of isocitrate dehydrogenase1/2 (IDH1/2) mutations are matter of debate. The aim of this study was to investigate the stability of NPM1 and IDH1/2 mutations at diagnosis and relapse retrospectively in 916 adult AML patients. The prognostic value of MRD was evaluated by droplet digital PCR on the DNA level in a selected subgroup of p

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Wang, Na, Fei Wang, Ningning Shan, Xiaohui Sui, and Hongzhi Xu. "IDH1 Mutation Is an Independent Inferior Prognostic Indicator for Patients with Myelodysplastic Syndromes." Acta Haematologica 138, no. 3 (2017): 143–51. http://dx.doi.org/10.1159/000479546.

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Background: Genomic sequencing technologies have identified isocitrate dehydrogenase (IDH) mutations in haematological malignancies. The prognostic implications of somatic IDH mutation (mIDH) in myelodysplastic syndromes (MDS) remain controversial. Methods: Mutations in IDH1 and IDH2 were detected using genomic sequencing technologies in 97 patients with MDS. Results: Seven (7.2%) mutations were identified: 3 in IDH1 (all R132C) and 4 in IDH2 (3 R140Q and 1 R140L). The frequency of mutation was 16.6% (2/12) in refractory anaemia with excess blasts (RAEB)-1 and 14.7% (5/34) in RAEB-2. IDH1/2 mu

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Weller, Michael, Bettina Hentschel, Matthias Simon, et al. "Long-term survival in primary glioblastoma revisited: The contribution of isocitrate dehydrogenase mutations." Journal of Clinical Oncology 31, no. 15_suppl (2013): 2027. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.2027.

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2027 Background: The determinants of long-term survival in glioblastoma have remained largely obscure. Isocitrate dehydrogenase (IDH) 1 or 2 mutations are common in WHO grade 2/3 gliomas, but rare in primary glioblastomas, and associated with longer survival. Methods: We compared clinical and molecular characteristics of 69 patients with centrally confirmed glioblastoma and survival > 36 months (LTS-36), including 33 patients surviving > 60 months (LTS-60), with 259 patients surviving < 36 months. MGMT promoter methylation, 1p/19q codeletions, EGFR amplification, TP53 mutations and ID

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Sanson, Marc, Yannick Marie, Sophie Paris, et al. "Isocitrate Dehydrogenase 1 Codon 132 Mutation Is an Important Prognostic Biomarker in Gliomas." Journal of Clinical Oncology 27, no. 25 (2009): 4150–54. http://dx.doi.org/10.1200/jco.2009.21.9832.

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Purpose Unexpected mutations affecting the isocitrate dehydrogenase (IDH1) gene at codon 132 have been found in 12% of glioblastomas. Patients and Methods IDH1 codon 132 sequencing was performed in a series of 404 patients with glioma (100 grade 2, 121 grade 3, and 183 grade 4 gliomas) and correlated with histology, genomic profile, methylguanyl methyltransferase (MGMT) promoter methylation status, and outcome. Results A total of 155 codon 132 mutations were found, of which 131 were Arg132His (88.5%). The IDH1 mutation was inversely correlated with grade, affecting 77% of grade 2, 55% of grade

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Ayad, Essam, Sylvia Mikhael Ghattas, Rabab Abdel Moneim, Azzam Ismail, and Rasha A. Khairy. "Assessment of Isocitrate Dehydrogenase 1 Mutation by Immunohistochemistry in Egyptian Patients with High-grade Gliomas." Open Access Macedonian Journal of Medical Sciences 9, A (2021): 157–63. http://dx.doi.org/10.3889/oamjms.2021.5891.

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BACKGROUND: At present, the classification of central nervous system tumors relies on molecular factors in addition to histologic features to identify many tumor types. This should subsequently results in more accurate diagnosis as well as addressing specific markers of potential prognostic and predictive value. AIM: This study was conducted to emphasize the importance of including isocitrate dehydrogenase 1 (IDH1) evaluation as a crucial part of the diagnosis and categorization of high-grade glioma cases. This also may help to individualize the treatment of high-grade glioma patients. MATERIA

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Ohba, Shigeo, Kazuhiro Murayama, Kiyonori Kuwahara, et al. "The Correlation of Fluorescence of Protoporphyrinogen IX and Status of Isocitrate Dehydrogenase in Gliomas." Neurosurgery 87, no. 2 (2019): 408–17. http://dx.doi.org/10.1093/neuros/nyz524.

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Abstract BACKGROUND The extent of resection has been reported to be associated with overall survival in gliomas. The use of 5-aminolevulinic acid (5-ALA) has been recognized to increase the extent of tumor resection. OBJECTIVE To evaluate what factors affect the intraoperative fluorescence after administration of 5-ALA in gliomas. METHODS Correlation of intraoperative fluorescence and several clinical, radiographic, molecular biologic, and histopathologic characters was retrospectively evaluated in 104 patients (53 males and 51 females; mean age 54.2 yr) with gliomas at our institution. To cla

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DiNardo, Courtney D., Anthony S. Stein, Eytan M. Stein, et al. "Mutant Isocitrate Dehydrogenase 1 Inhibitor Ivosidenib in Combination With Azacitidine for Newly Diagnosed Acute Myeloid Leukemia." Journal of Clinical Oncology 39, no. 1 (2021): 57–65. http://dx.doi.org/10.1200/jco.20.01632.

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PURPOSE Ivosidenib is an oral inhibitor of the mutant isocitrate dehydrogenase 1 (IDH1) enzyme, approved for treatment of IDH1-mutant (m IDH1) acute myeloid leukemia (AML). Preclinical work suggested that addition of azacitidine to ivosidenib enhances mIDH1 inhibition–related differentiation and apoptosis. PATIENTS AND METHODS This was an open-label, multicenter, phase Ib trial comprising dose-finding and expansion stages to evaluate safety and efficacy of combining oral ivosidenib 500 mg once daily continuously with subcutaneous azacitidine 75 mg/m2 on days 1-7 in 28-day cycles in patients wi

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Griffiths, Elizabeth A., Brandon Carter-Cooper, Seda Tolu, et al. "Presence of Isocitrate Dehydrogenase (IDH) Mutations May Predict Clinical Response to Hypomethylating Agents in Patients with Acute Myeloid Leukemia (AML)." Blood 124, no. 21 (2014): 3724. http://dx.doi.org/10.1182/blood.v124.21.3724.3724.

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Abstract Introduction: Mutations in IDH1 and IDH2 occur in 15-20% of AML cases, inducing the production of the oncometabolite, 2-hydroxyglutarate, which results in aberrant hypermethylation of DNA in leukemic cells. DNA methyltransferase inhibitors (DNMTI), which induce DNA hypomethylation, are used off-label for the treatment of AML and have been shown to result in remission in 20-40% of patients. We hypothesized that DNMTI treatment would produce superior clinical responses in AML patients with IDH mutations compared to those AML patients without IDH mutations. Method: The medical records of

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Choe, Sung, Hongfang Wang, Courtney D. DiNardo, et al. "Molecular mechanisms mediating relapse following ivosidenib monotherapy in IDH1-mutant relapsed or refractory AML." Blood Advances 4, no. 9 (2020): 1894–905. http://dx.doi.org/10.1182/bloodadvances.2020001503.

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Abstract Isocitrate dehydrogenase (IDH) 1 and 2 mutations result in overproduction of D-2-hydroxyglutarate (2-HG) and impaired cellular differentiation. Ivosidenib, a targeted mutant IDH1 (mIDH1) enzyme inhibitor, can restore normal differentiation and results in clinical responses in a subset of patients with mIDH1 relapsed/refractory (R/R) acute myeloid leukemia (AML). We explored mechanisms of ivosidenib resistance in 174 patients with confirmed mIDH1 R/R AML from a phase 1 trial. Receptor tyrosine kinase (RTK) pathway mutations were associated with primary resistance to ivosidenib. Multipl

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Kanamori, Masayuki, Atsuo Kikuchi, Mika Watanabe, et al. "Rapid and sensitive intraoperative detection of mutations in the isocitrate dehydrogenase 1 and 2 genes during surgery for glioma." Journal of Neurosurgery 120, no. 6 (2014): 1288–97. http://dx.doi.org/10.3171/2014.3.jns131505.

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Object Intraoperative diagnosis is important in determining the strategies during surgery for glioma. Because the mutations in the isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) genes have diagnostic, prognostic, and predictive values, the authors assessed the feasibility and significance of a simplified method for the intraoperative detection of IDH1 and IDH2 gene mutations. Methods Rapid DNA extraction, amplification with conventional polymerase chain reaction (PCR) or co-amplification at lower denaturation temperature PCR (COLD-PCR), and fluorescence melting curve analysis with adjacent h

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Boissel, Nicolas, Olivier Nibourel, Aline Renneville, et al. "Prognostic Impact of Isocitrate Dehydrogenase Enzyme Isoforms 1 and 2 Mutations in Acute Myeloid Leukemia: A Study by the Acute Leukemia French Association Group." Journal of Clinical Oncology 28, no. 23 (2010): 3717–23. http://dx.doi.org/10.1200/jco.2010.28.2285.

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Purpose Recently, whole-genome sequencing in acute myeloid leukemia (AML) identified recurrent isocitrate dehydrogenase enzyme isoform (IDH1) mutations (IDH1m), previously reported to be involved in gliomas as well as IDH2 mutations (IDH2m). The prognosis of both IDH1m and IDH2m in AML remains unclear. Patients and Methods The prevalence and the prognostic impact of R132 IDH1 and R172 IDH2 mutations were evaluated in a cohort of 520 adults with AML homogeneously treated in the French Acute Leukemia French Association (ALFA) -9801 and -9802 trials. Results The prevalence of IDH1m and IDH2m was

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Ogawara, Yoko, Hironori Matsunaga, Takahiko Seki, Yukino Machida, Kazushi Araki, and Issay Kitabayashi. "The Role of IDH Mutants, Which Are Promising Therapeutic Targets for Acute Myeloid Leukemia." Blood 126, no. 23 (2015): 3796. http://dx.doi.org/10.1182/blood.v126.23.3796.3796.

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Abstract Mutations in isocitrate dehydrogenase (IDH) 1 and 2 are frequently observed in acute myeloid leukemia (AML), glioma, and many other cancers. While wild-type IDHs convert isocitrate to α-ketoglutarate (α-KG), mutant IDHs convert α-KG to oncometabolite 2-hydroxyglutarate (2-HG), which dysregulates a set of α-KG-dependent dioxygenases, such as TETs, histone demethylases, EGLNs, and other enzymes. Because the role of mutant IDH is not necessary for normal cells, inhibitors directed against mutant IDH are not expected to have the side effects as those of anti-cancer agents. To determine wh

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Chou, Wen-Chien, Hsin-An Hou, Chien-Yuan Chen, et al. "Distinct clinical and biologic characteristics in adult acute myeloid leukemia bearing the isocitrate dehydrogenase 1 mutation." Blood 115, no. 14 (2010): 2749–54. http://dx.doi.org/10.1182/blood-2009-11-253070.

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Abstract Mutations of nicotinamide adenine dinucleotide phosphate-dependent isocitrate dehydrogenase gene (IDH1) have been identified in patients with gliomas. Recent genome-wide screening also revealed IDH1 mutation as a recurrent event in acute myeloid leukemia (AML), but its clinical implications in AML are largely unknown. We analyzed 493 adult Chinese AML patients in Taiwan and found 27 patients (5.5%) harboring this mutation. IDH1 mutation was strongly associated with normal karyotype (8.4%, P = .002), isolated monosomy 8 (P = .043), NPM1 mutation (P < .001), and French-American-Briti

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Dunn, Gavin P., Ovidiu C. Andronesi, and Daniel P. Cahill. "From genomics to the clinic: biological and translational insights of mutant IDH1/2 in glioma." Neurosurgical Focus 34, no. 2 (2013): E2. http://dx.doi.org/10.3171/2012.12.focus12355.

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The characterization of the genomic alterations across all human cancers is changing the way that malignant disease is defined and treated. This paradigm is extending to glioma, where the discovery of recurrent mutations in the isocitrate dehydrogenase 1 (IDH1) gene has shed new light on the molecular landscape in glioma and other IDH-mutant cancers. The IDH1 mutations are present in the vast majority of low-grade gliomas and secondary glioblastomas. Rapidly emerging work on the consequences of mutant IDH1 protein expression suggests that its neomorphic enzymatic activity catalyzing the produc

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Virijevic, Marijana, Teodora Karan-Djurasevic, Irena Marjanovic, et al. "Somatic mutations of isocitrate dehydrogenases 1 and 2 are prognostic and follow-up markers in patients with acute myeloid leukaemia with normal karyotype." Radiology and Oncology 50, no. 4 (2016): 385–93. http://dx.doi.org/10.1515/raon-2016-0044.

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Abstract Background Mutations in the isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) genes are frequent molecular lesions in acute myeloid leukaemia with normal karyotype (AML-NK). The effects of IDH mutations on clinical features and treatment outcome in AML-NK have been widely investigated, but only a few studies monitored these mutations during follow-up. Patients and methods In our study samples from 110 adult de novo AML-NK were studied for the presence of IDH1 and IDH2 mutations, their associations with other prognostic markers and disease outcome. We also analyzed the stability of thes

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Chaturvedi, Anuhar, Michelle Maria Araujo Cruz, Ramya Goparaju, et al. "Prolyl Hydroxylase 3 (Phd3) Is a Therapeutic Target in Isocitrate Dehydrogenase 1 (IDH1) Mutated Acute Myeloid Leukemia." Blood 132, Supplement 1 (2018): 759. http://dx.doi.org/10.1182/blood-2018-99-110425.

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Abstract Background: About 40% of IDH1 mutated (IDH1mut) acute myeloid leukemia (AML) patients respond to IDH1 inhibitors with a median duration of response of 8.2 months. A better understanding of the biology of IDH1mut leukemia may further improve the treatment of these patients. IDH1mut produces R-2-hydroxyglutarate (R-2HG), which activates PHD1 and PHD2 but have negligible effects on PHD3. In the present study we assessed whether PHD3 plays a role in the pathogenesis of IDH1 mutated leukemia and can be targeted in a patient-derived xenograft (PDX) model of IDH1 mutated AML. Methods: Bone m

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Ravandi, Farhad, Keyur P. Patel, Rajyalakshmi Luthra, et al. "Prognostic Significance of Mutations In Isocitrate Dehydrogenase (IDH) Enzyme Isoforms 1 and 2 and Single Nucleotide Polymorphisms (SNP) In IDH1, In Patients with Acute Myeloid Leukemia Treated with High Dose Cytarabine and Idarubicin Induction." Blood 116, no. 21 (2010): 2706. http://dx.doi.org/10.1182/blood.v116.21.2706.2706.

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Abstract Abstract 2706 Background IDH1 and IDH2 gene mutations have been identified as novel, recurring molecular aberrations among patients with normal karyotype acute myeloid leukemia (AML). The potential impact of these mutations as well as an IDH1 single nucleotide polymorphism (SNP) on the outcome of the patients is being actively investigated. Materials and Methods Among 358 patients with AML treated from October 2004 to February 2010 on 4 consecutive protocols using high dose ara-C plus idarubicin induction therapy (IA alone, IA plus tipifarnib [IAT], IA plus sorafenib [IAS], and IA plu

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Liu, Yang, Yanxin Lu, Aiguo Li, et al. "mTORC2/Rac1 Pathway Predisposes Cancer Aggressiveness in IDH1-Mutated Glioma." Cancers 12, no. 4 (2020): 787. http://dx.doi.org/10.3390/cancers12040787.

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Isocitrate dehydrogenase (IDH) mutations are common genetic abnormalities in lower grade gliomas. The neomorphic enzyme activity of IDH mutants leads to tumor formation through epigenetic alteration, dysfunction of dioxygenases, and metabolic reprogramming. However, it remains elusive as to how IDH mutants regulate the pathways associated with oncogenic transformation and aggressiveness. In the present study, by using unbiased transcriptomic profiling, we showed that IDH1 mutations result in substantial changes in the gene sets that govern cellular motility, chemotaxis, and invasion. Mechanist

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Takayama, Tatsuya, Mitsuhiro Kitagawa, Naohisa Takaoka, et al. "Renal cell carcinoma with a novel germ-line mutation in isocitrate dehydrogenase 1 (IDH1) and its functional study." Journal of Clinical Oncology 31, no. 15_suppl (2013): e15568-e15568. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.e15568.

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e15568 Background: Recently, omics study such as metabolome analysis and whole genome sequencing has been applied to various disorders. We predicted the dysfunction of isocitrate dehydrogenase 1 (IDH1) in renal cell carcinoma (RCC) using metabolome analysis and identified a novel mutation of IDH1. In addition, we examined its function. Methods: We determined the global-scale metabolome profiling of human RCC by capillary electrophoresis time-of-flight mass spectrometry (CE-TOFMS), and compared the metabolite levels of tumors and paired normal tissues in 10 patients with RCC. We performed the g

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Luna, Lucas A., Zachary Lesecq, Katharine A. White, et al. "An acidic residue buried in the dimer interface of isocitrate dehydrogenase 1 (IDH1) helps regulate catalysis and pH sensitivity." Biochemical Journal 477, no. 16 (2020): 2999–3018. http://dx.doi.org/10.1042/bcj20200311.

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Isocitrate dehydrogenase 1 (IDH1) catalyzes the reversible NADP+-dependent conversion of isocitrate to α-ketoglutarate (αKG) to provide critical cytosolic substrates and drive NADPH-dependent reactions like lipid biosynthesis and glutathione regeneration. In biochemical studies, the forward reaction is studied at neutral pH, while the reverse reaction is typically characterized in more acidic buffers. This led us to question whether IDH1 catalysis is pH-regulated, which would have functional implications under conditions that alter cellular pH, like apoptosis, hypoxia, cancer, and neurodegener

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KANG, CHUNG HYO, SANG UN CHOI, YOU HWA SON, et al. "Discovery of a Novel Chemical Scaffold Against Mutant Isocitrate Dehydrogenase 1 (IDH1)." Anticancer Research 40, no. 9 (2020): 4929–35. http://dx.doi.org/10.21873/anticanres.14496.

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Kawakami, Shota, Kazuhiko Ochiai, Daigo Azakami, et al. "R132 mutations in canine isocitrate dehydrogenase 1 (IDH1) lead to functional changes." Veterinary Research Communications 42, no. 1 (2017): 49–56. http://dx.doi.org/10.1007/s11259-017-9707-8.

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