|
Acute Erythroblastic Leukemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
Recent studies revealed that allosteric inhibitors could selectively inhibit IDH2/R140Q and induce differentiation of TF-1 erythroleukemia and primary human AML cells.
|
29184081 |
2017 |
|
leukemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
Conditional deletion of IDH2/R140Q blocked 2-HG production and maintenance of leukemia stem cells, resulting in survival of the AML mice.
|
25795706 |
2015 |
|
D-2-hydroxyglutaric aciduria
|
|
0.010 |
GeneticVariation
|
BEFREE |
The recent discovery of heterozygous isocitrate dehydrogenase 2 (IDH2) mutations of residue Arg(140) to Gln(140) or Gly(140) (IDH2(wt/R140Q), IDH2(wt/R140G)) in d-2-hydroxyglutaric aciduria (D-2-HGA) has defined the primary genetic lesion in 50% of D-2-HGA patients, denoted type II.
|
21889589 |
2011 |
|
Combined D-2- and L-2-hydroxyglutaric aciduria
|
|
0.010 |
GeneticVariation
|
BEFREE |
The recent discovery of heterozygous isocitrate dehydrogenase 2 (IDH2) mutations of residue Arg(140) to Gln(140) or Gly(140) (IDH2(wt/R140Q), IDH2(wt/R140G)) in d-2-hydroxyglutaric aciduria (D-2-HGA) has defined the primary genetic lesion in 50% of D-2-HGA patients, denoted type II.
|
21889589 |
2011 |
|
D-2-HYDROXYGLUTARIC ACIDURIA 1
|
|
0.010 |
GeneticVariation
|
BEFREE |
To confirm the IDH2(wt/R140Q) gain-of-function in D-2-HGA type II, and to evaluate potential therapeutic strategies, we developed a specific and sensitive IDH2(wt/R140Q) enzyme assay in lymphoblasts.
|
21889589 |
2011 |
|
Blastic plasmacytoid dendritic cell neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we describe the first case of an IDH2 R140Q-mutated blastic plasmacytoid dendritic cell neoplasm in a patient with markedly elevated plasma d-2HG.
|
25481493 |
2015 |
|
Primary Myelofibrosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
IDH2 mutations included R140Q (n=3; one post-PMF AML, one post-PV AML and one PMF) and a novel R140W (n=1; mutation found in both chronic- and blast-phase samples).
|
20410924 |
2010 |
|
Chronic myeloproliferative disorder
|
|
0.010 |
GeneticVariation
|
BEFREE |
Three IDH2 R140Q mutations were found in 2/108 MPN (1.85%) and 1/22 MDS (4.54%) patients, while one IDH2 G145G allele was found in 0.92% (1/108) of MPN patients.
|
25486927 |
2015 |
|
Leukemia, Myelocytic, Acute
|
|
0.780 |
CausalMutation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Leukemia, Myelocytic, Acute
|
|
0.780 |
CausalMutation
|
CLINVAR |
Impact of genetic features on treatment decisions in AML.
|
22160010 |
2011 |
|
Leukemia, Myelocytic, Acute
|
|
0.780 |
CausalMutation
|
CLINVAR |
Prognostic relevance of integrated genetic profiling in acute myeloid leukemia.
|
22417203 |
2012 |
|
MYELODYSPLASTIC SYNDROME
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Colorectal Neoplasms
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Multiple Myeloma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Squamous cell carcinoma of the head and neck
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
D-2-HYDROXYGLUTARIC ACIDURIA 2
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
D-2-HYDROXYGLUTARIC ACIDURIA 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.
|
20847235 |
2010 |
|
D-2-HYDROXYGLUTARIC ACIDURIA 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studies.
|
21889589 |
2011 |
|
Leukemia, Myelocytic, Acute
|
|
0.780 |
CausalMutation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
Leukemia, Myelocytic, Acute
|
|
0.780 |
CausalMutation
|
CLINVAR |
Intriguingly, the IDH2 mutation p.R140Q and novel IDH1 mutation p.I99M co-occurred in a 75-year-old patient with AML developed from myelodysplastic syndromes (MDS).
|
20946881 |
2010 |
|
Leukemia, Myelocytic, Acute
|
|
0.780 |
CausalMutation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Leukemia, Myelocytic, Acute
|
|
0.780 |
CausalMutation
|
CLINVAR |
There were 9 AML patients with R140Q mutation, 1 patient with R140W mutation, and 1 patient with R172K mutation.
|
23815907 |
2013 |
|
Leukemia, Myelocytic, Acute
|
|
0.780 |
CausalMutation
|
CLINVAR |
Rapid detection of IDH2 (R140Q and R172K) mutations in acute myeloid leukemia.
|
23949315 |
2013 |
|
Leukemia, Myelocytic, Acute
|
|
0.780 |
CausalMutation
|
CLINVAR |
Impact of genetic features on treatment decisions in AML.
|
22160010 |
2011 |
|
Leukemia, Myelocytic, Acute
|
|
0.780 |
CausalMutation
|
CLINVAR |
Molecular evaluation of DNMT3A and IDH1/2 gene mutation: frequency, distribution pattern and associations with additional molecular markers in normal karyotype Indian acute myeloid leukemia patients.
|
24606448 |
2014 |