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 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 Median overall survival of IDH-wildtype TERTp-mutant astrocytomas was 27 mo. 30407589 2019
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 Thus, the question remains whether the established histopathological grading criteria for malignant astrocytomas in the absence of an IDH mutation are still important if neither vascular proliferation nor necrosis are detectable. 31623667 2019
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 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 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 Shorter PFS was associated with the astrocytoma IDH-wildtype subtype despite similar extent of resection and adjuvant treatment rates compared to the other subtypes.OS did not differ between subtypes. 30498891 2019
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE There were nine (50%) CNV-S and nine (50%) CNV-U IDH mutant astrocytomas. 31134296 2019
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE Pathogenic Epigenetic Consequences of Genetic Alterations in IDH-Wild-Type Diffuse Astrocytic Gliomas. 31431463 2019
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 Biomarker disease BEFREE Young patients with IDH wild type astrocytomas and glioblastoma had better outcomes than reported historical controls. 31371189 2019
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE We have therefore conducted a comprehensive analysis of conventional MR features of IDHwt astrocytomas and performed a Bayesian logistic regression model to identify critical radiological and basic clinical features that can predict IDH mutation status. 31005161 2019
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 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 Biomarker disease BEFREE With the advent of molecular genetics, molecular diagnostic testing has been added to histological evaluation in the armamentarium of the pathologist, and the recent World Health Organization (WHO) Classification of Tumors of the Central Nervous System encourages testing for isocitrate dehydrogenase (IDH) gene status in the classification of diffuse astrocytic gliomas. 29548048 2018
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 Trisomy of chromosome 7 in IDH mutated astrocytoma and PTEN mutations in IDH mutated oligodendroglioma are potential markers of poor prognosis, but require confirmation in larger series. 29663171 2018
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 These results suggest that chromosomal instability can negate the beneficial effect of IDH mutations in WHO II-III astrocytomas. 29741737 2018
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE We showed that there was a subgroup, although small, of IDH-mutated astrocytomas harboring 19q-loss that present oligodendroglial morphology, and also were associated with significantly better prognosis compared to other 19q-intact astrocytomas. 29752851 2018
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 Biomarker disease BEFREE Recent data suggest that diffuse gliomas carrying mutations in codon 34 of the H3 histone family 3A protein represent a very rare, distinct subgroup of IDH-wild type malignant astrocytic gliomas. 30358620 2018
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE Nonmeasurable Speckled Contrast-Enhancing Lesions Appearing During Course of Disease Are Associated With IDH Mutation in High-Grade Astrocytoma Patients. 30071292 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 Biomarker disease BEFREE The chemokine signaling pathway could characterize subtypes of IDH wild-type astrocytomas. 29221210 2017
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 GeneticVariation disease BEFREE Non-canonical IDH mutations were identified in 13/52 (25.0%) grade II gliomas (astrocytomas: 8/31, 25.8%; oligodendrogliomas: 5/21, 23.8%) and in 5/40 (12.5%) grade III gliomas (astrocytomas: 3/25, 12.0%; oligodendrogliomas: 2/15, 13.3%). 28748342 2017