IDH2, isocitrate dehydrogenase (NADP(+)) 2, 3418

N. diseases: 380; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 Biomarker disease HPO
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE Astrocytomas WHO grade II exhibited IDH1 mutations in 38 cases (76%) but neither IDH2 mutations nor BRAF fusions. 19543740 2009
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE IDH mutations were observed in 63.2% of astrocytomas, 73.3% of diffuse oligodendrogliomas and 12.90% of glioblastomas. 27268645 2016
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE IDH mutation is an important prognostic factor of diffuse astrocytomas. 30113684 2019
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE A discovery cohort of 211 IDH-mutant astrocytic gliomas with an extended observation was subjected to histological review, image analysis, and DNA methylation studies. 29687258 2018
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE A total of 135 cases consisted of 38 IDH-mutant [17 astrocytoma (AC), 13 oligodendroglioma (OD) and eight glioblastoma (GBM)], 87 IDH-wildtype (six AC, three OD and 78 GBM), and 10 diffuse midline glioma, H3K27M-mutant. 30710203 2019
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 Biomarker disease BEFREE Adult IDH wild type astrocytomas biologically and clinically resolve into other tumor entities. 26087904 2015
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE Among Group 5, IDH-wildtype astrocytomas, the TERT-WT group had significantly better overall survival than the TERT-MUT group (HR: 0.48, 95% CI 0.27-0.87), p = 0.02). 28255664 2017
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE As expected, the methylation profiles of all four tumors were found to match most closely with IDH-mutant astrocytomas. 28421459 2017
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an "integrated" diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma. 25427834 2015
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE By contrast MAP - 2 expression was significantly increased in diffuse astrocytomas with IDH mutation, while NOGO - A expression was not associated with any molecular marker. 29258767 2018
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE Despite the favorable prognostic factors, including World Health Organization grades II and III astrocytomas and IDH mutations, the outcome was poor. 31698124 2020
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE Distinct spectral profiles were observed for lesions with IDH-mutated genotypes, between astrocytoma and oligodendroglioma histologies, as well as for tumors that had undergone MP. 28327577 2017
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE Evidence also supports the conclusion that the vast majority of diffuse gliomas without IDH mutations (IDH-wild-type astrocytomas) behave like IDH-wild-type glioblastomas ("molecular GBM"). 29775073 2018
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE False positive mismatch sign was noted in 28.5% (12/42) Group O tumors, but none of the tumors in Group G. A combination of all three factors: age under 40 years at first diagnosis, a tumor size larger than 6 cm and T2-FLAIR mismatch was highly specific for IDH mutant astrocytoma (Group A). 30536195 2019
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE GPR158 promotes glioma stem cell differentiation and induces apoptosis and is highest expressed in the cerebral cortex and in oligodendrogliomas, lower in IDH mutant astrocytomas and lowest in the most malignant form of glioma, IDH wild-type glioblastoma. 29720725 2018
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE However, later genome-wide methylation profiling of the diagnostic tumor undertaken to guide treatment, revealed characteristics most consistent with IDH-mutant astrocytoma. 28993028 2018
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE IDH1 and IDH2 are mutated in 50%-80% of astrocytomas, oligodendrogliomas, oligoastrocytomas, and secondary glioblastomas but are seldom mutated in primary glioblastomas. 23877318 2013
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE IDH1 codon 132 and IDH2 codon 172 mutation status were determined by direct sequencing for a retrospective series of 100 patients with histologically diagnosed Astrocytomas WHO Grad II (A II), and investigated for association with patient outcome. 22528790 2012
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE IDH1 mutations were present in 86% of the 49 progressive astrocytomas.No mutations in IDH2 were found. 19933982 2009
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE In non 1p/19q codeleted LGGs, we demonstrated that (i) 11p loss is associated with astrocytoma phenotype and has an independent negative prognostic value, and (ii) 19q loss diminished the favorable prognostic value of IDH mutation. 24335697 2014
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE In patients with astrocytoma, the TERT promoter mutations only associated with poor survival (P < 0.0001); IDH mutations and 1p/19q deletions associated with increased survival (P = 0.0004). 25797251 2015
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE Median overall survival of IDH-wildtype TERTp-mutant astrocytomas was 27 mo. 30407589 2019
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 Biomarker disease BEFREE Moreover, we found two genetic/clinical correlations that must be evaluated to understand their impact in the clinical setting: i) how is PTEN deletion a favorable prognostic factor in GBM IDH wildtype and an unfavorable prognostic factor in astrocytoma IDH wildtype and ii) how EGFR amplification is an independent and strong factor of response to radiotherapy. 31623593 2019
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 Biomarker disease BEFREE Mutations in isocitrate dehydrogenase enzyme isoforms 1 (IDH1) and 2 (IDH2) have been identified in many adult astrocytomas and oligodendrogliomas. 19915484 2009