|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
t(8;21)(q22;q22), found in acute myeloid leukemia (AML) and occasionally in myelodysplasia (MDS), results in the fusion of the AML1 gene on 22q22 to the ETO gene on 8q22, generating a chimeric AML1/ETO transcript, which is a molecular marker of the translocation.
|
7828132 |
1995 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The AML1 gene, which is located at the translocation breakpoint of the t(8;21)(q22;q22) translocation found in acute myelocytic leukemia, was also rearranged by the t(3;21)(q26;q22) translocation.
|
8313895 |
1994 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Since 2 alternatively spliced variants of the acute myeloid leukemia-1 (AML-1) class of TFs can bind the AML-1 region, AML-1A and AML-1B, the relationship between the expression levels of AML-1A or AML-1B in MM cells and their capacity to express MIP-1alpha was examined.
|
12560229 |
2003 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The translocation t(8;21)(q22;q22) affecting AML1 and ETO genes is known to be one of the frequent chromosome translocations in acute myeloid leukemia.
|
18183572 |
2008 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Variant chromosomal translocations associated with t(8;21) are observed in 3-4% of acute myeloid leukemia (AML) cases with a RUNX1-RUNX1T1 fusion gene.
|
29264741 |
2018 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Amplification of the AML1(CBFA2) gene on ring chromosomes in a patient with acute myeloid leukemia and a constitutional ring chromosome 21.
|
11165321 |
2001 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
AML1 mutations were highly significantly associated with presentation of the disease as t-MDS (P =.003), with deletion or loss of chromosome arm 7q (P =.001) and with subsequent transformation to overt t-AML (P =.0001).
|
15142876 |
2004 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of GATA1, FLT3, MLL-partial tandem duplication, NRAS, and RUNX1 genes are not found in a 7-year-old Down syndrome patient with acute myeloid leukemia (FAB-M2) having a good prognosis.
|
18068539 |
2008 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
There was no difference in overall survival between patients with and without RUNX1 mutations, but a trend of higher risk of acute myeloid leukemia (AML) progression was observed in mutation-positive patients (16/30 vs 17/51, P=0.102), especially in patients with C-terminal mutations (P=0.023).
|
19282830 |
2009 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Ecotropic virus integration site-1 (EVI-1) gene, locus on chromosome 3 (3q26.2) in the human genome, was first found in the AKXD strain of mice, in a model of retrovirus-induced acute myeloid leukemia (AML) established twenty years ago.
|
26496831 |
2015 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Aberrant CD79a and/or PAX5 expression can be found in AML cases with RUNX1 mutations even without the translocation t(8; 21).
|
30396184 |
2019 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Alternative splicing and genomic structure of the AML1 gene involved in acute myeloid leukemia.
|
7651838 |
1995 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identical fusion transcript associated with different breakpoints in the AML1 gene in simple and variant t(8;21) acute myeloid leukemia.
|
7869765 |
1995 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The presence of this novel variant of t(8;21)(q22;q22) associated with trisomy 6 may have abrogated the usual favorable prognosis associated with RUNX1T1/RUNX1 in AML.
|
19167612 |
2009 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
For AML with AML1-ETO fusion gene, IDH1(mut) patients may have worse disease-free survival (DFS) than IDH1(wild-type) patients.
|
21316759 |
2011 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Acute myelogenous leukemia (AML) carrying t(8;21)(q22;q22) or inv(16)/t(16;16)(p13;q22) is classified as core binding factor (CBF)-AML and accounts for approximately 15% of AML. c-KIT mutation can be detected in 17%∼46% of CBF-AML and is associated with poor prognosis. c-KIT mutation is a crucial hit and cooperates with AML1-ETO resulting from t(8;21)(q22;q22) to cause overt AML.
|
27512117 |
2016 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
For example, in acute myeloid leukemia (AML) higher epigenetic age-predictions are associated with increased incidence of mutations in RUNX1, WT1, and IDH2, whereas mutations in TET2, TP53, and PML-PARA translocation are more frequent in younger age-predictions.
|
26110659 |
2015 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We cloned a novel RUNX1 chimeric gene generated by t(7;21)(q11.2;q22) in a patient with acute myeloid leukemia.
|
22661044 |
2012 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The t(8;21), which typically is associated with a distinct subtype of de novo acute myeloid leukemia (AML) carrying the aml1/eto fusion gene, was accompanied by increased bone marrow myeloblasts (33%) in case 1 and extramedullary myeloid sarcoma in case 2, suggesting its possible role in disease progression.
|
15198355 |
2004 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This proposed diagnostic group is supported by (i) retained myeloid differentiation potential during early T cell lymphoid development, (ii) recognition that some cases of acute myeloid leukaemia (AML) harbour hallmarks of T cell development, such as T-cell receptor gene rearrangements and (iii) common gene mutations in subsets of AML and T cell acute lymphoblastic leukaemia (T-ALL), including WT1, PHF6, RUNX1 and BCL11B.
|
29441563 |
2018 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Somatically acquired point mutations of AML1/RUNX1 gene have been recently identified in rare cases of acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS).
|
12393679 |
2003 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, a new cell line was established which will be useful for the study of AML with normal cytogenetics and mutations in NRAS and/or RUNX1.
|
19414191 |
2009 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This finding increases our understanding of the mechanisms by which the AML1/ETO protein may contribute to modified gene expression linked to the onset and progression of t(8;21) related acute myelogenous leukemia.
|
10906759 |
2000 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we identify somatic mutations in additional sex combs-like 2 (ASXL2) in 22.7% (25/110) of patients with t(8;21), but not in patients with inv(16)/t(16;16) (0/60) or RUNX1-mutated AML (0/26).
|
24973361 |
2014 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
They include a nonsense mutation affecting the RUNX1 gene, which is a known mutational target in AML, and a missense mutation in the putative tumor suppressor gene TLE4, which encodes a RUNX1 interacting protein.
|
21339757 |
2011 |