|
MYELODYSPLASTIC SYNDROME
|
0.200 |
Biomarker
|
group |
BEFREE |
Mutations in genes such as SF3B1 and IDH1/2 have already had an impact on targeted treatment approaches in MDS.
|
29791902 |
2019 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
IDH1 mutations have been identified as a recurrent genetic anomaly in acute myeloid leukemia and myelodysplastic syndromes.
|
31592861 |
2019 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Here, we describe a case of a HSS that led to the diagnosis of MDS with an isocitrate dehydrogenase 1 (IDH-1) mutation and a corresponding study looking for additional cases of IDH-1 mutations in biopsies of histiocytoid and conventional Sweet syndrome.
|
30632174 |
2019 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We then evaluated the follow-up specimens with a known IDH1 mutation status including acute myeloid leukemia (n=23), MDS (n=2), MDS/MPN (n=2), and MPN (n=2).
|
29635257 |
2018 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We present two patients who were diagnosed with SS and concomitant IDH1-mutated MDS.
|
29599340 |
2018 |
|
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 |
GeneticVariation
|
group |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
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 |
BEFREE |
Moreover, IDH1/2 mutation status predicted relapse or disease evolution in 100% of cases if we included the patient who developed myelodysplastic syndrome.
|
26486081 |
2015 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
Biomarker
|
group |
BEFREE |
IDH1/2(MT) was associated with poor overall survival, particularly in lower risk myelodysplastic syndromes.
|
25836588 |
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 |
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 |
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 |
GeneticVariation
|
group |
BEFREE |
Recent studies are shedding light on the molecular basis of myelodysplasia and how mutations and epimutations can induce and promote this neoplastic process through aberrant transcription factor function (RUNX1, ETV6, TP53), kinase signalling (FLT3, NRAS, KIT, CBL) and epigenetic deregulation (TET2, IDH1/2, DNMT3A, EZH2, ASXL1, SF3B1, U2AF1, SRSF2, ZRSR2).
|
24903747 |
2014 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
Biomarker
|
group |
BEFREE |
Mutations in the gene encoding isocitrate dehydrogenease 1 (IDH1) occur in various hematopoietic tumors including acute myeloid leukemia (AML), myeloproliferative neoplasms and myelodysplastic syndromes.
|
24376688 |
2013 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Over the past few years, large-scale genomic studies of patients with myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML) have unveiled recurrent somatic mutations in genes involved in epigenetic regulation (DNMT3A, IDH1/2, TET2, ASXL1, EZH2 and MLL) and the spliceosomal machinery (SF3B1, U2AF1, SRSF2, ZRSR2, SF3A1, PRPF40B, U2AF2, and SF1).
|
23645565 |
2013 |
|
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 |
The current study suggests a powerful adverse prognostic effect for mutant IDH1 in MDS.
|
22033490 |
2012 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In conclusion, IDH1/2 mutations are recurrent but rare molecular aberrations in Chinese AML and MDS.
|
21997850 |
2012 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In multivariate analysis, when considering karyotype, transfusion dependence, and IDH1 mutation status, ASXL1 frameshift mutations remained an independent prognostic marker in MDS (overall survival: HR, 1.85; 95% CI, 1.03 to 3.34; P = .040; time to AML progression: HR, 2.39; 95% CI, 1.12 to 5.09; P = .024).
|
21576631 |
2011 |
|
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 |