|
MYELODYSPLASTIC SYNDROME
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Pattern associated leukemia immunophenotypes and measurable disease detection in acute myeloid leukemia or myelodysplastic syndrome with mutated NPM1.
|
30417521 |
2019 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
Biomarker
|
group |
BEFREE |
Fusion protein nucleophosmin-human myeloid leukemia factor 1 (NPM-hMLF1), which is associated with the pathologies of myelodysplastic syndrome and acute myeloid leukemia, was recently shown to suppress defects in the <i>Drosophila</i> FTLD model expressing the human <i>FUS</i> gene.
|
31136977 |
2019 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
Biomarker
|
group |
BEFREE |
We used flow cytometry (FC), an emerging technique for assessing dysplasia, to investigate MLD in NPM1⁺ AML by an immunophenotypic score (IPS), a technique previously adopted in myelodysplastic syndrome.
|
26101160 |
2015 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
Biomarker
|
group |
BEFREE |
Gene abnormality patterns differed between MDS and AML, with mutations of activated signaling molecules and NPM1 being rare, whereas those of spliceosome more common, in MDS.
|
24850867 |
2014 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
Biomarker
|
group |
BEFREE |
Our observations suggest that the aberrant feed-forward pathway that keeps eIF4E and C/EBPαp30 elevated in NPM1(+/-) cells contributes to the MDS phenotype associated with NPM1 deficiency.
|
22851180 |
2012 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MK(+) patients were significantly older (P = .0001), had lower white blood counts (P = .0006), and lower percentages of BM blasts (P = .0004); MK was associated with the presence of -5/5q-, -7, 7q-, abnl(12p), abnl(17p), -18/18q-, -20/20q-, inv(3)/t(3;3), complex karyotype (CK), and myelodysplasia (MDS)-related cytogenetic abnormalities (P < .0001, each); and NPM1 mutations (P < .0001), FLT3 internal tandem duplications (P < .0001), and tyrosine kinase domain mutations (P = .02) were less frequent in MK(+).
|
22096250 |
2012 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Thus, NPM1 mutations are involved in the transformation from MDS to AML or MPN to blast phase in single cases, which should be further confirmed in larger studies.
|
21233837 |
2011 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
Biomarker
|
group |
BEFREE |
Murine models have implicated heterozygous loss of APC, EGR1, DIAPH1, and NPM1 in the pathophysiology of del(5q) MDS.
|
21943668 |
2011 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
Biomarker
|
group |
BEFREE |
Screening for hotspot mutations in PI3K, JAK2, FLT3 and NPM1 in patients with myelodysplastic syndromes.
|
21789382 |
2011 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We conclude that FLT3 and NPM1 mutations are rare in MDS, but assessment of mutation status is potentially useful for predicting progression to AML.
|
21173125 |
2011 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Thus, in the 2008 WHO classification, NPM1-mutated AML with MLD is classified as AML with myelodysplasia (MD)-related changes (MRCs).
|
20203266 |
2010 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
PosttranslationalModification
|
group |
BEFREE |
In conclusion, the finding suggests that NPM1 methylation is rare in MDS and does not play a major role in its pathogenesis.
|
20924036 |
2010 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in TET2 occurred with similar frequency in MDSs and AMLs and associated equally with either ASXL1 or NPM1 mutations.
|
20678218 |
2010 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We examined 193 patients with myelodysplastic syndromes and 53 patients with acute myeloid leukemia arising from myelodysplastic syndromes for mutations in IDH1 (R132), IDH2 (R172 and R140), and NPM1 by direct sequencing.
|
20494930 |
2010 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
GeneticVariation
|
group |
BEFREE |
NPM1 deletion was an uncommon event in the "5q- syndrome" but occurred in over 40% of cases with high risk MDS/AML with complex karyotypes and 5q loss.
|
20877721 |
2010 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
GeneticVariation
|
group |
BEFREE |
NPM1 but not FLT3-ITD mutations predict early blast cell clearance and CR rate in patients with normal karyotype AML (NK-AML) or high-risk myelodysplastic syndrome (MDS).
|
19279329 |
2009 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
Biomarker
|
group |
BEFREE |
The increase in the number of nuclear NPM1-positive cells may be related to the progression of MDS.
|
19052985 |
2008 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
AlteredExpression
|
group |
LHGDN |
The increase in the number of nuclear NPM1-positive cells may be related to the progression of MDS.
|
19052985 |
2008 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
Biomarker
|
group |
BEFREE |
We have previously shown that mice heterozygous for Npm1 (Npm1+/-) develop a hematologic syndrome with features of human MDS.
|
18212245 |
2008 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
GeneticVariation
|
group |
BEFREE |
NPM1 mutations were not detected in the 28 patients with MDS and AML with chromosome 5 abnormalities.
|
17990177 |
2007 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
GeneticVariation
|
group |
LHGDN |
NPM1 mutations were identified in four AML patients and two MDS patients, including one novel sequence variant.
|
16678898 |
2007 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MDS with t(3;5) (NPM/MLF1) is an unusual subtype without a well-defined clinical and prognostic pattern.
|
18090933 |
2007 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
GeneticVariation
|
group |
BEFREE |
NPM1 mutations in myelodysplastic syndromes and acute myeloid leukemia with normal karyotype.
|
16678898 |
2007 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
GeneticVariation
|
group |
LHGDN |
NPM1 mutations were not detected in the 28 patients with MDS and AML with chromosome 5 abnormalities.
|
17990177 |
2007 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
Biomarker
|
group |
BEFREE |
The MLF1 and RARA genes are fused with NPM1 in myelodysplastic syndrome and acute myeloid leukemia (AML) with t(3;5) and acute promyelocytic leukemia with t(5;17), respectively.
|
16984370 |
2006 |