Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.100 GeneticVariation phenotype BEFREE However, the contribution of IDH1 mutation in the malignant transformation and development of NSCLC is unclear. 30305430 2018
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.100 GeneticVariation phenotype BEFREE These findings suggest that IDH mutation status alone is not sufficient to predict risk of malignant transformation and survival at the individual level. 29676695 2018
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.100 Biomarker phenotype BEFREE In this review, we summarize current knowledge regarding the function of normal and mutated IDH, explain the possible mechanisms through which these mutations might drive malignant transformation of progenitor cells in the central nervous system, and provide a comprehensive review of potential treatment strategies for IDH-mutated malignancies, focusing on gliomas. 30194083 2018
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.100 GeneticVariation phenotype BEFREE These pediatric low-grade gliomas (LGGs) are fundamentally different from IDH-mutant LGGs occurring in adults, because they rarely undergo malignant transformation and show excellent overall survival under current treatment strategies. 28640698 2017
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.100 GeneticVariation phenotype BEFREE This supports the findings that molecular events relevant to IDH mutations impact early glioma development prior to malignant transformation. 26780338 2016
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.100 PosttranslationalModification phenotype BEFREE In contrast, mutated IDH1/2 proteins possess a neomorphic enzymatic function that changes α-KG into the oncometabolite, R(-)-2-hydroxyglutarate, resulting in genomic hypermethylation, histone methylation, genetic instability, and malignant transformation. 25324168 2015
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.100 GeneticVariation phenotype BEFREE Moreover, malignant transformation of IDH1-mutated gliomas is of potential interest, as its genomic mechanism under influence of oncometabolite remains unclear, and even higher rate of malignant transformation was reported in IDH1-mutated low grade gliomas than in wild-type IDH1 tumors. 26524630 2015
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.100 GeneticVariation phenotype BEFREE The low frequency of IDH1 mutation status in our cystic cohort strongly suggests that most newly diagnosed cystic GBMs do not arise from malignant transformation of previously undiagnosed low-grade gliomas. 24089051 2014
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.100 Biomarker phenotype BEFREE In summary, our findings suggest that cMYC may be associated with a unique clinicopathologic and biologic group of infiltrating gliomas and help mediate the malignant transformation of IDH1 mutant gliomas. 23934175 2013
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.100 GeneticVariation phenotype BEFREE Samples from 54 patients were screened for IDH mutations: 17 patients with LGG without malignant transformation, 18 patients with both LGG and their consecutive secondary glioblastomas (sGBM; n = 36), 2 additional patients with sGBM, 10 patients with primary glioblastomas (pGBM), and 7 patients without gliomas. 23410661 2013
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.100 GeneticVariation phenotype BEFREE IDH1 mutations, which were significantly associated with TP53 mutations and/or MGMT promoter methylation (P < .001), resulted in shortened PFS (median, 47 vs 84 months; P = .004); postrecurrence survival, however, was significantly increased in those patients undergoing malignant transformation (median, 49 vs 13.5 months; P = .006). 21717448 2012
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.100 Biomarker phenotype BEFREE The presence of mutant IDH1 in gangliogliomas correlated with a greater risk of recurrence (P=0.0007) and malignant transformation and/or death (P<0.0001) compared with tumors that were IDH1 wild type. 21314850 2011