|
Enchondromatosis
|
0.790 |
Biomarker
|
disease |
BEFREE |
Mutant IDH is sufficient to initiate enchondromatosis in mice.
|
25730874 |
2015 |
|
Enchondromatosis
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Ollier disease and Maffucci syndrome are two enchondromatosis syndromes characterized by the development of multiple benign cartilaginous tumors due to post-zygotic acquisition of IDH mutations.
|
27036230 |
2016 |
|
Enchondromatosis
|
0.790 |
Biomarker
|
disease |
BEFREE |
Molecular profiling of different glioma specimens from an Ollier disease patient suggests a multifocal disease process in the setting of IDH mosaicism.
|
30159860 |
2018 |
|
Enchondromatosis
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
IDH1/2 mutations occur in enchondromas and chondrosarcomas in patients with the non-hereditary enchondromatosis syndromes Ollier disease and Maffucci syndrome and in sporadic tumors.
|
29339836 |
2018 |
|
Enchondromatosis
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors.
|
22057234 |
2011 |
|
Enchondromatosis
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, somatic IDH1 and IDH2 mutations, and loss-of-function mutations in ten-eleven translocation (TET) methylcytosine dioxygenase-2 (TET2) associated with a hypermethylation phenotype, are also found in multiple enchondromas of patients with Ollier disease and Mafucci syndrome, and leukemia, respectively.
|
23801749 |
2013 |
|
Enchondromatosis
|
0.790 |
Biomarker
|
disease |
BEFREE |
Mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 are found in a somatic mosaic fashion in patients with multiple enchondromas.
|
26046462 |
2015 |
|
Enchondromatosis
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.
|
22057236 |
2011 |
|
Enchondromatosis
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
IDH1 immunohistochemistry reactivity and mosaic IDH1 or IDH2 somatic mutations in pediatric sporadic enchondroma and enchondromatosis.
|
31240473 |
2019 |
|
Glioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Homodisomy of chromosome 17p (CNLOH 17p) is a frequent feature in IDH-mutated 1p19q non-codeleted gliomas (group 2).
|
27401888 |
2016 |
|
Glioma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Several alterations like <i>IDH1/2</i> mutations that interfere with "epigenetic modifier" enzymes, the mutations of the histone 3 variants H3.1 and H3.3 that alter the global H3K27me3 levels and the altered expression of histone methyltransferases and demethylases are considered potentially druggable targets in glioma and molecules targeting these alterations are being tested in preclinical and clinical trials.
|
30386738 |
2018 |
|
Glioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our study provides direct evidence that mutation of IDH1 profoundly inhibits the growth of glioma cells, and we speculate that this is the major factor behind its association with prolonged survival in glioma.
|
24362902 |
2014 |
|
Glioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the IDH1 gene at position R132 coding for the enzyme cytosolic isocitrate dehydrogenase are known in glioma and have recently been detected also in acute myeloid leukemia (AML).
|
20805365 |
2010 |
|
Glioma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Among IDH-wildtype gliomas, an even higher portion (44.4%, 67/151) showed significantly larger BTVs in the early summation images, which was observed in 5.3% (5/94) of IDH-mutant gliomas only: most of the latter had significantly smaller BTVs in the early summation images, i.e.
|
29487977 |
2018 |
|
Glioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Examination of the relationship between the mutation status and other pertinent variables demonstrated a significant male predominance among IDH1-mutated gliomas, most notably in grade III to IV astrocytic neoplasms.
|
23111198 |
2012 |
|
Glioma
|
0.700 |
Biomarker
|
disease |
BEFREE |
IDH mutations are a favorable prognostic factor for human glioma and can be used as biomarker for differential diagnosis and subclassification rather than predictor of response to treatment.
|
22002076 |
2011 |
|
Glioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our results indicate that to better treat gliomas, IDH mutation status should be included when determining WHO2007 grade in glioma patients.
|
27120786 |
2016 |
|
Glioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We determined the levels of D-2-hydroxyglutarate in glioma tissues with IDH1 mutations.
|
24529257 |
2014 |
|
Glioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Analysis of Raman spectra revealed increased intensities in spectral bands related to DNA in IDH1 mutant glioma while bands assigned to molecular vibrations of lipids were significantly decreased.
|
29761368 |
2018 |
|
Glioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Glioma-derived mutations in IDH1 dominantly inhibit IDH1 catalytic activity and induce HIF-1alpha.
|
19359588 |
2009 |
|
Glioma
|
0.700 |
Biomarker
|
disease |
BEFREE |
IDH2 mutations were associated with better outcomes compared with IDH wild-type gliomas (P < 0.05).
|
31833906 |
2019 |
|
Glioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The metabolomics data were tested for correlation with glioma grade (high vs low), glioblastoma (GBM) versus malignant gliomas, and IDH mutation status.
|
26967252 |
2016 |
|
Glioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To address this, we investigated molecular and prognostic features of grade III glioma with and without IDH1/2 mutation.
|
21971842 |
2012 |
|
Glioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, glutamate levels were significantly decreased in IDH1 mutant gliomas.
|
27154922 |
2016 |
|
Glioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We investigated the impact of IDH1 mutations on spontaneous glioma growth rate, known to be an early prognostic factor.The mean tumor diameter was assessed on the first MRI performed at diagnosis and on a second MRI, performed immediately before surgery, in a series of 64 WHO grade II gliomas.
|
22392125 |
2012 |