IDH1, isocitrate dehydrogenase (NADP(+)) 1, 3417

N. diseases: 399; N. variants: 10
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 There were nine (50%) CNV-S and nine (50%) CNV-U IDH mutant astrocytomas. 31134296 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 Pathogenic Epigenetic Consequences of Genetic Alterations in IDH-Wild-Type Diffuse Astrocytic Gliomas. 31431463 2019
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 AlteredExpression disease BEFREE Using an integrated functional genomics approach, we prioritized networks associated with astrocytoma progression using the following criteria: differential co-expression between grade II and grade III IDH1-mutated and 1p/19q euploid astrocytomas, preferential enrichment for genetic risk to cancer, association with patient survival and sample-level genomic features. 31420939 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 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 AlteredExpression disease BEFREE Multivariate analysis further revealed that prognosis of astrocytoma was significantly associated with Sp1 expression (p = 0.036) and IDH-1 expression (p < 0.001). 29948615 2019
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.200 Biomarker disease BEFREE The presented data confirm the cIMPACT-NOW recommendation and we propose that IDH1/2wt astrocytomas WHO IV in the absence of other qualifying mutations should be classified as IDH1/2wt glioblastomas. 31637414 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 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 Since the discovery that IDH1/2 mutations confer a significantly better prognosis in astrocytomas, much work has been done to identify other molecular signatures to help further stratify lower-grade astrocytomas and glioblastomas, with the goal of accurately predicting clinical outcome and identifying potentially targetable mutations. 31177992 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 Median overall survival of IDH-wildtype TERTp-mutant astrocytomas was 27 mo. 30407589 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 Of these, we recommend, OA,NOS and IDH1(R132H)-non-mt ODG,NOS to be our priority for performing 1p/19q co-deletion studies in comparison to IDH-mt ODG,NOS, and it would not be mandatory for astrocytoma. 28801347 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 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 In the subgroup of 142 glioma patients characterized by IDH1-R132H status, METT/N ratio demonstrated a significant prognostic impact in IDH1-R132H wildtype astrocytomas and glioblastoma (P = 0.001). 29016947 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 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 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 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