|
MYELODYSPLASTIC SYNDROME
|
0.200 |
Biomarker
|
group |
BEFREE |
The aim of this study was to examine whether serum 2-HG has utility as a prognostic biomarker, and whether elevated 2-HG levels are predictive of IDH mutations in patients with MDS.
|
29549529 |
2018 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in IDH1 and IDH2 were detected using genomic sequencing technologies in 97 patients with MDS.
|
28873367 |
2018 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Recurring mutations in isocitrate dehydrogenase (IDH) genes are detected in approximately 20% of adult patients with acute myeloid leukemia (AML) and 5% of adults with myelodysplastic syndromes (MDS).
|
27721426 |
2017 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
Biomarker
|
group |
BEFREE |
This study furthers implementation of clinical genomics in MDS and identifies TP53 and IDH2 as targets for pre- or post-transplant therapy.
|
28687222 |
2017 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) are key metabolic enzymes, converting isocitrate to α-ketoglutarate (αKG).IDH1 and IDH2 mutations have been identified in multiple tumor types, including gliomas and myeloid malignancies such as acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS).
|
27005468 |
2016 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
Biomarker
|
group |
BEFREE |
Detection of Dual IDH1 and IDH2 Mutations by Targeted Next-Generation Sequencing in Acute Myeloid Leukemia and Myelodysplastic Syndromes.
|
26331834 |
2015 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We performed polymerase chain reaction-denaturing high performance liquid chromatography (PCR-DHPLC) followed by direct sequencing to detect IDH mutations in 237 patients with myeloproliferative neoplasms (MPNs; n=108), myelodysplastic syndrome (MDS; n=22), paroxysmal nocturnal hemoglobinuria (PNH; n=41), and aplastic anemia (AA; n=66).
|
25486927 |
2015 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The recent recognition that genes involved in the regulation of histone function (EZH2, ASXL1, and UTX) and DNA methylation (DNMT3A, IDH1/IDH2, and TET2) are frequently mutated in MDS, has led to the proposal that there is an important link between genetic and epigenetic alterations in this disease.
|
25976472 |
2015 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
Biomarker
|
group |
BEFREE |
Mutation status of TET2, IDH1 and IDH2 was investigated in a cohort of 46 paired myelodysplastic syndrome/acute myeloid leukemia samples and 122 non-paired cases with de novo myelodysplastic syndrome, to clarify their roles in the evolution of myelodysplastic syndrome to acute myeloid leukemia.
|
23996483 |
2014 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We identified six previous studies of IDH mutations in MDS.
|
24936872 |
2014 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
Biomarker
|
group |
BEFREE |
In conclusion, IDH mutation is a useful biomarker for risk stratification of patients with lower-risk MDS.
|
24115220 |
2014 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
PosttranslationalModification
|
group |
BEFREE |
Another significant advance in MDS pathogenesis research is the recent identification of mutations in genes encoding transcription factors implicated in hematopoiesis and proteins involved in splicing (SF3B1), methylation (DNMT3A), regulation of methylation (TET2 and IDH), DNA conformation (EZH2 and ASXL1) and differentiation (N- and K-RAS).
|
23394086 |
2013 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
IDH1 and IDH2 mutations were found in four (2.0%) and ten (5.0%) AML and in two (2.4%) and three (3.6%) MDS cases, but not in other patients.
|
21997850 |
2012 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In the current study of 277 patients with MDS, IDH mutations were detected in 34 (12%) cases: 26 IDH2 (all R140Q) and 8 IDH1 (6 R132S and 2 R132C).
|
22033490 |
2012 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
DNA was available in 138 patients and mutation screening revealed 20 cases with JAK2, 6 with IDH, and 3 with MPL mutations; JAK2 and MPL mutations were seen mostly in MPN or "MDS with isolated del(5q)" whereas IDH mutations were frequent in other MDS variants.
|
21523797 |
2011 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
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 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
No IDH2 R140 or R172 mutations were identified in patients with myelodysplastic syndromes.
|
20494930 |
2010 |