Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
There are a number of predictors for transformation that have been identified: these include mutations of genes in growth signaling pathways (NRAS, KRAS, PTPN11, FLT3), mutations in genes more commonly observed in AML (NPM1, WT1, IDH2), certain cytogenetic abnormalities (monosomy 7, complex karyotype, loss of 17p).
|
30466744 |
2018 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
However, there were still genetic categories in which stratification of patients into favorable or intermediate risk categories was controversial; the low allelic ratio of FLT3-ITD was not necessarily associated with a better prognosis in patients with FLT3-ITD, and cytogenetic abnormalities may affect the prognosis in patients with favorable genetic lesions such as NPM1 and CEBPA mutations.
|
29360622 |
2018 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
RNA remnants underwent gene expression profiling analysis using the AML profiler, which detects chromosomal aberrations: t(8;21), t(15;17), inv(16), mutations (CEBPAdm, ABD-NPM1) and BAALC and EVI1 expression.
|
27140599 |
2017 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
NPM1 mutations were associated with the absence of chromosomal aberrations (P=0.007) and FLT3/ITD (P=0.018).
|
23511494 |
2013 |
Congenital chromosomal disease
|
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 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In addition, AML with erythroid predominance had a lower frequency of cytogenetic abnormalities as well as a lower frequency of mutations involving NPM1, NRAS and FLT3 as compared with AML without erythroid predominance.
|
22844482 |
2012 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Moreover, the biologic and clinical features of NPM1-mutated AML do not seem to be significantly influenced by concomitant chromosomal aberrations or multilineage dysplasia.
|
21030560 |
2011 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In multivariate Cox regression including age, mutations in FLT3 and NPM1, and cytogenetic abnormalities, the HRs for LSC score in the 3 cohorts with data on all variables were 1.07 (95% CI, 1.01-1.13; P = .02), 1.10 (95% CI, 1.03-1.17; P = .005), and 1.17 (95% CI, 1.05-1.30; P = .005).
|
21177505 |
2010 |
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
NPM1 gene status was related to the pattern of complex cytogenetic aberrations.
|
20877721 |
2010 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Findings in our patients point to chromosomal aberrations as secondary events, reinforce the concept that NPM1 mutation is a founder genetic lesion, and indicate that NPM1-mutated AML should be clinically handled as one entity, irrespective of the karyotype.
|
19429869 |
2009 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Only 1 of 10 patients with NPM1 mutations presented chromosome aberrations characteristic of therapy-related disease, and 7q-/-7, the most frequent abnormalities of t-MDS/t-AML, were not observed (P=0.002).
|
18273044 |
2008 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Serial analyses of NPM mutations showed the mutation disappeared at complete remission, but the same mutation reappeared at relapse, except for one who lost the mutation at the second relapse, when new cytogenetic abnormalities emerged.
|
16540685 |
2006 |
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Immunocytochemical labeling with these antibodies can therefore confirm that an ALK-positive lymphoma expresses NPM-ALK (rather than a variant ALK-fusion protein) and may also provide evidence for chromosomal anomalies involving the NPM gene other than the classical (2;5) translocation.
|
9885226 |
1999 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
These in vitro studies have demonstrated that the proliferation is characterized by a unique chromosomal abnormality, the 5q35bp usually associated with a t(2;5) translocation generating a fusion gene NPM/ALK and the subsequent translation of p80 protein.
|
9561912 |
1998 |