|
rs1695
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.020 |
GeneticVariation
|
BEFREE |
The GSTP1-Ile105Val polymorphism is likely to influence MDS risk and prognosis.
|
19027952 |
2009 |
|
rs1695
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.020 |
GeneticVariation
|
BEFREE |
Genetic polymorphism of GSTM1, GSTT1 and GSTP1 Ile105Val was investigated in a case-control study in a Hungarian patient population comprising 86 patients with myelodysplastic syndrome and 99 hospital-based controls.
|
18493876 |
2008 |
|
rs1800562
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.050 |
GeneticVariation
|
BEFREE |
Increased prevalence of HFE gene mutations is not a generalized feature of MDS, but some subgroups of MDS, especially those characterized by excessive accumulation of ringed sideroblasts, exhibit C282Y mutations at a higher frequency than in other forms of MDS and healthy controls.
|
17654685 |
2007 |
|
rs1800562
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.050 |
GeneticVariation
|
BEFREE |
49 patients with MM were compared to 61 patients with myelodysplastic syndrome (MDS) concerning the incidence of two genetic variants of the HFE gene (C282Y and H63D) identified with PCR-RFLP.
|
17001480 |
2006 |
|
rs1800562
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.050 |
GeneticVariation
|
BEFREE |
Genotypic testing of nonselected patients with the myelodysplastic syndrome (MDS) for the C282Y and H63D mutations of the HFE gene responsible for hereditary hemochromatosis revealed a significantly increased frequency of these mutations when compared to healthy blood donors reflecting the average population.
|
12624489 |
2003 |
|
rs1800562
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.050 |
GeneticVariation
|
BEFREE |
The H63D variant was observed in 35% and the C282Y variant as heterozygous in 5% of patients with MDS with IOL.
|
25841232 |
2015 |
|
rs1800562
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.050 |
GeneticVariation
|
BEFREE |
With C282Y, increased OR occurred in non-Hodgkin lymphoma, myeloproliferative disorders, and adenocarcinoma of prostate (2.0, 2.8, and 3.4, respectively); OR was decreased in myelodysplasia (0.4).
|
15018631 |
2004 |
|
rs1799945
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.040 |
GeneticVariation
|
BEFREE |
49 patients with MM were compared to 61 patients with myelodysplastic syndrome (MDS) concerning the incidence of two genetic variants of the HFE gene (C282Y and H63D) identified with PCR-RFLP.
|
17001480 |
2006 |
|
rs1799945
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.040 |
GeneticVariation
|
BEFREE |
Genotypic testing of nonselected patients with the myelodysplastic syndrome (MDS) for the C282Y and H63D mutations of the HFE gene responsible for hereditary hemochromatosis revealed a significantly increased frequency of these mutations when compared to healthy blood donors reflecting the average population.
|
12624489 |
2003 |
|
rs1799945
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.040 |
GeneticVariation
|
BEFREE |
The H63D variant was observed in 35% and the C282Y variant as heterozygous in 5% of patients with MDS with IOL.
|
25841232 |
2015 |
|
rs1799945
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.040 |
GeneticVariation
|
BEFREE |
The results suggest that H63D mutations may not have clinical significance in Chinese patients with MDS and AA.
|
20563578 |
2010 |
|
rs121913500
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.710 |
GeneticVariation
|
BEFREE |
All the initial diagnostic specimens with IDH1 p.R132H mutation including acute myeloid leukemia (n=30), myelodysplastic syndromes (MDS) (n=10), MDS/myeloproliferative neoplasms (MPN) (n=4), and MPN (n=5) were positive by IHC, demonstrating 100% antibody sensitivity.
|
29635257 |
2018 |
|
rs121913499
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.710 |
GeneticVariation
|
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 |
|
rs142883642
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.010 |
GeneticVariation
|
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 |
|
rs121913502
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.720 |
GeneticVariation
|
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 |
|
rs121913502
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.720 |
GeneticVariation
|
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 |
|
rs118101777
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.010 |
GeneticVariation
|
BEFREE |
All the initial diagnostic specimens with IDH1 p.R132H mutation including acute myeloid leukemia (n=30), myelodysplastic syndromes (MDS) (n=10), MDS/myeloproliferative neoplasms (MPN) (n=4), and MPN (n=5) were positive by IHC, demonstrating 100% antibody sensitivity.
|
29635257 |
2018 |
|
rs16944
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.010 |
GeneticVariation
|
BEFREE |
In conclusion, our present data shows that the IL-1β polymorphisms (rs16944) GG were frequently occurred in MDS.
|
27693669 |
2016 |
|
rs77375493
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.100 |
GeneticVariation
|
BEFREE |
Herein, we describe the clinical, morphologic, immunophenotypic, cytogenetic, and molecular genetic findings in two MDS/AML cases that contained both MYC rearrangement and the JAK2 V617F mutation.
|
26382622 |
2015 |
|
rs77375493
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.100 |
GeneticVariation
|
BEFREE |
At the time of MDS to CMML evolution, mutations in JAK2 (V617F), FLT3 (ITD), K-ras-2, or N-ras were not acquired, and only 1 (6%) of 17 evaluable cases showed cytogenetic progression.
|
17050076 |
2006 |
|
rs77375493
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.100 |
GeneticVariation
|
BEFREE |
Bone marrow-derived genomic DNA from 245 patients--119 with chronic myelomonocytic leukemia (CMML), 101 with MDS, 11 with hypereosinophilic syndrome (HES), 8 with systemic mastocytosis (SM), and 6 with chronic neutrophilic leukemia (CNL)--was screened for the JAK2 V617F mutation.
|
15860661 |
2005 |
|
rs77375493
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.100 |
GeneticVariation
|
BEFREE |
The V617F mutation is present in blood and marrow from a large proportion of patients with classic BCR/ABL-negative chronic myeloproliferative disorders and of a few patients with other clonal hematological diseases such as myelodysplastic syndrome, atypical myeloproliferative disorders, and acute myeloid leukemia.
|
16931578 |
2006 |
|
rs77375493
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.100 |
GeneticVariation
|
BEFREE |
Because detailed clinical and hematological characteristics of CBL-mutated cases is lacking, we screened 156 BCR-ABL and JAK2 V617F negative patients with myeloproliferative neoplasms (MPN) and overlap syndromes between myelodysplastic syndrome (MDS) and MPN (MPS/MPN) for mutations in exons 8 and 9 of CBL by denaturing high-performance liquid chromatography and direct sequencing.
|
23010802 |
2012 |
|
rs77375493
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.100 |
GeneticVariation
|
BEFREE |
We applied single nucleotide polymorphism arrays (SNP-A) to study karyotypic abnormalities in patients with atypical myeloproliferative syndromes (MPD), including myeloproliferative/myelodysplastic syndrome overlap both positive and negative for the JAK2 V617F mutation and secondary acute myeloid leukemia (AML).
|
18030353 |
2007 |
|
rs77375493
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.100 |
GeneticVariation
|
BEFREE |
To determine if JAK2 V617F mutation is implicated in the abnormal thrombopoiesis of the 3q21q26 syndrome, we analyzed bone marrow samples of 12 patients, including 10 patients with acute myeloid leukemia and 2 patients with a myelodysplastic syndrome, associated with either inv(3)(q21;q26) or t(3;3)(q21;q26).
|
20153505 |
2010 |