|
Malignant Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
One patient was diagnosed with multicentric isocitrate dehydrogenase 1 (IDH1) mutated diffuse astrocytomas harboring distinct IDH1 mutations, R132H and R132C; the latter mutation has been associated with Li-Fraumeni syndrome, which was subsequently confirmed in the patient's germline DNA and shown in additional cases with The Cancer Genome Atlas data.
|
29077933 |
2018 |
|
Glioblastoma Multiforme
|
|
0.020 |
GeneticVariation
|
BEFREE |
In addition to the previously reported p.R132H and p.R132S alleles, we identified three novel somatic mutations (p.R132C, p.R132G, and p.R132L) affecting residue IDH1(R132) in GBM.
|
19117336 |
2009 |
|
melanoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Melanomas from 10 separate patients (4.9%) were positive for IDH1 R132C (nine) or R132S (one).
|
30003571 |
2018 |
|
Glioblastoma Multiforme
|
|
0.020 |
GeneticVariation
|
BEFREE |
Furthermore, SMab-1 specifically stained the IDH1-R132S-expressing glioblastoma cells in immunocytochemistry and immunohistochemistry, but did not react with IDH1-WT or IDH1-R132H-containing glioblastoma cells.
|
21352804 |
2011 |
|
Enchondroma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions).
|
22057234 |
2011 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
|
0.010 |
GeneticVariation
|
BEFREE |
The presence of a somatic IDH1 (c.394C>T, p.R132C) mutation and a concurrent somatic ATRX splicing mutation (c.4318-2A>G) in the current case was confirmed.
|
29846902 |
2018 |
|
Primary malignant neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
One patient was diagnosed with multicentric isocitrate dehydrogenase 1 (IDH1) mutated diffuse astrocytomas harboring distinct IDH1 mutations, R132H and R132C; the latter mutation has been associated with Li-Fraumeni syndrome, which was subsequently confirmed in the patient's germline DNA and shown in additional cases with The Cancer Genome Atlas data.
|
29077933 |
2018 |
|
Chondrosarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Of the 13 chondrosarcomas analyzed, six (46.1%) displayed IDH1/2 mutations (the predominant type was IDH1 R132C).
|
22323113 |
2012 |
|
Lymphoma, Non-Hodgkin
|
|
0.010 |
GeneticVariation
|
BEFREE |
Except for one non-Hodgkin lymphoma (NHL) patient harboring IDH1 mutation p.R132C, all IDH1 and IDH2 missense mutations were observed in patients with AML.
|
20946881 |
2010 |
|
Vascular lesions
|
|
0.010 |
GeneticVariation
|
BEFREE |
We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions).
|
22057234 |
2011 |
|
Adult Fibrosarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, using a genetically engineered inducible system, we report that selective suppression of endogenous mutant IDH1 expression in HT1080, a fibrosarcoma cell line with a native IDH1(R132C) heterozygous mutation, significantly inhibits cell proliferation and decreases clonogenic potential.
|
22885298 |
2012 |
|
Sarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
By screening dozens of reported natural compounds using both wild-type and mutant IDH1 enzymatic assays, we discovered Licochalcone A is a selective inhibitor to the R132C-mutant IDH1 with an IC<sub>50</sub> value of 5.176 μM, and inhibits the proliferation of sarcoma HT-1080 cells with an IC<sub>50</sub> value of 10.75 μM.
|
31836442 |
2020 |
|
Osteosarcoma of bone
|
|
0.010 |
GeneticVariation
|
BEFREE |
On the other hand, IDH1 R132C inhibited expression of the ALPL gene in association with an increase in the repressive mark (H3K9me3), and subsequently inhibited the osteogenic properties of hMSCs and human osteosarcoma</span> cells.
|
26161668 |
2015 |
|
Primary cholangiocarcinoma of intrahepatic biliary tract
|
|
0.010 |
GeneticVariation
|
BEFREE |
Three cases in iCC (6.5%) and five cases in HCC (10.4%) had IDH1 mutation, all of which were Arg132Cys.
|
28403884 |
2017 |
|
Intrahepatic Cholangiocarcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Three cases in iCC (6.5%) and five cases in HCC (10.4%) had IDH1 mutation, all of which were Arg132Cys.
|
28403884 |
2017 |
|
Osteosarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
On the other hand, IDH1 R132C inhibited expression of the ALPL gene in association with an increase in the repressive mark (H3K9me3), and subsequently inhibited the osteogenic properties of hMSCs and human osteosarcoma</span> cells.
|
26161668 |
2015 |
|
Sinonasal undifferentiated carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Literature search revealed a virtual absence of IDH2 R172 and IDH1 R132S mutations in >1000 cases of 8 different malignancies included in the differential diagnosis of sinonasal undifferentiated carcinoma.
|
30206411 |
2019 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
|
0.010 |
GeneticVariation
|
BEFREE |
The presence of a somatic IDH1 (c.394C>T, p.R132C) mutation and a concurrent somatic ATRX splicing mutation (c.4318-2A>G) in the current case was confirmed.
|
29846902 |
2018 |
|
Childhood Glioblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, SMab-1 specifically stained the IDH1-R132S-expressing glioblastoma cells in immunocytochemistry and immunohistochemistry, but did not react with IDH1-WT or IDH1-R132H-containing glioblastoma cells.
|
21352804 |
2011 |
|
Secondary malignant neoplasm of lung
|
|
0.010 |
GeneticVariation
|
BEFREE |
A somatic, heterozygous IDH1 c.C394T (p.R132C) mutation was identified in one human melanoma metastasis to the lung.
|
20603105 |
2010 |
|
Central Nervous System Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
Sanger sequencing revealed a common IDH1 R132C mutation among all three CNS tumors but not in blood DNA.
|
30579273 |
2018 |
|
Malignant neoplasm of soft tissue
|
|
0.010 |
GeneticVariation
|
BEFREE |
By screening dozens of reported natural compounds using both wild-type and mutant IDH1 enzymatic assays, we discovered Licochalcone A is a selective inhibitor to the R132C-mutant IDH1 with an IC<sub>50</sub> value of 5.176 μM, and inhibits the proliferation of sarcoma HT-1080 cells with an IC<sub>50</sub> value of 10.75 μM.
|
31836442 |
2020 |
|
Clear Cell Hepatocellular Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
IDH1 R132C mutation is detected in clear cell hepatocellular carcinoma by pyrosequencing.
|
28403884 |
2017 |
|
Childhood Astrocytoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
IDH1 mutations of the R132C type are strongly associated with astrocytoma, while IDH2 mutations predominantly occur in oligodendroglial tumors.
|
19554337 |
2009 |
|
Fibrosarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, using a genetically engineered inducible system, we report that selective suppression of endogenous mutant IDH1 expression in HT1080, a fibrosarcoma cell line with a native IDH1(R132C) heterozygous mutation, significantly inhibits cell proliferation and decreases clonogenic potential.
|
22885298 |
2012 |