|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
It produces a chimeric protein, acute myeloid leukemia-1 (AML-1)-eight-twenty-one (ETO), that contains the amino-terminal DNA binding domain of the AML-1 transcriptional regulator fused to nearly all of ETO.
|
9819404 |
1998 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
On the other hand, a C-terminal truncated AML1 mutant (S291fsX300) induced pancytopenia with erythroid dysplasia in transplanted mice, followed by progression to MDS-RAEB or MDS/AML.
|
18192504 |
2008 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
AML1 mutations were identified in 6.3% of AML patients with chromosomal translocations involving CBF, PML-RARalpha, HOX, or ETS transcription factor (TF) gene families.
|
17550866 |
2007 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have identified CHD1 as the RUNX1 fusion partner in acute myeloid leukemia with t(5;21)(q21;q22).
|
25879624 |
2015 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The final three sections of the chapter cover the spectrum and clinical significance of RUNX1 point mutations in AML and myelodysplastic syndromes, in familial platelet disorder with associated myeloid malignancy, and in acute lymphoblastic leukemia.
|
28299658 |
2017 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
It remains to be established by which mechanism the mutant AML1 isoform may contribute to the leukemogenesis process of t(8;21)-positive acute myeloid leukemia.
|
8570222 |
1996 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Using acute myeloid leukemias harboring RUNX1 abnormalities as a model system, three novel chromosomal fusion sequences and KCNMA1 as a novel RUNX1 fusion partner gene were detected.
|
21252984 |
2011 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
RUNX1 mutations have also been detected with high frequency in minimally differentiated AML M0 subtypes and myelodysplastic/myeloproliferative neoplasms.
|
21268063 |
2011 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two of the most prevalent cytogenetic subtypes of adult primary AML, t(8;21)(q22;q22) and inv(16)(p13q22)/t(16;16)(p13;q22), are characterized by disruption of the AML1(CBFA2, RUNX1) and CBFbeta genes, respectively, which encode subunits of core binding factor (CBF), a regulator of normal hematopoiesis.
|
12930314 |
2003 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
However, in some families there is transmitted one mutated allele of RUNX1 with no dominant-negative function, demonstrating that simple haploinsufficiency of RUNX1 predisposes to AML and also causes a generalized hematopoietic stem cell disorder most recognizable as thrombocytopenia.
|
15061191 |
2004 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The AML-1/ETO fusion protein is created by the (8;21) translocation, the second most frequent chromosomal abnormality associated with acute myeloid leukemia.
|
7478604 |
1995 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we report two novel translocations involving the RUNX1 gene: t(1;21)(q12;q22) in a 53-year-old woman with AML-M5b and t(11;21)(q13;q22) in a 65-year-old man with AML-M2.
|
17854666 |
2007 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our study demonstrates the potential of high-resolution array-based analysis and GEP and provides further evidence that AML with insertions generating the 5'RUNX1/3'RUNX1T1 fusion not only biologically resemble the t(8;21)(q22;q22) AML subgroup, but might also share its prognostically favorable clinical behavior.
|
20967878 |
2011 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
These data suggested that AML1 point mutation is one of the major driving forces of MDS/AML, and these mutations may represent a distinct clinicopathologic-genetic entity.
|
14615365 |
2004 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2(V617F) mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML).
|
22571758 |
2012 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our findings firmly establish that RUNX1 mutations are a marker of poor prognosis and provide insights into the pathogenesis of RUNX1 mutation-positive acute myeloid leukemia.
|
22689681 |
2012 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
AML with mutated <i>NPM1</i> and AML with myelodysplasia-related changes comprised the oldest patients, whereas AML with <i>RUNX1-RUNX1T1</i> included the youngest patients.
|
30623623 |
2019 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline RUNX1 mutations result in a rare autosomal dominant condition characterized by qualitative and quantitative platelet defects and predisposition to the development of myeloid malignancies (familial platelet disorder with propensity to acute myeloid leukaemia, FPD/AML).
|
18478040 |
2008 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we compared the transcriptional networks of two types of AML with chromosomal translocations of the RUNX1 locus that fuse the RUNX1 DNA-binding domain to different regulators, the t(8;21) expressing RUNX1-ETO and the t(3;21) expressing RUNX1-EVI1.
|
28538183 |
2017 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Acute myeloid leukemia (AML) arises from genetic changes at the level of stem cell, various mutations have been elucidated, including AML1-ETO fusion gene has been shown as the representative target of cellular transformation for LSCs originating from hematopoietic stem cells (HSCs) compartment.
|
20444543 |
2010 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The core binding factor (CBF) gene RUNX1 is a target of chromosomal translocations in leukemia, including t(8;21) in acute myeloid leukemia (AML).
|
29249175 |
2018 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In multivariate analyses including a comprehensive set of molecular and clinical variables, we identified DNMT3A and RUNX1 mutations as important predictors of shorter overall survival (OS) in AML patients <60 years, and particularly in those with intermediate-risk cytogenetics.
|
27288520 |
2016 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
RUNX1 mutations were characterized by a distinct gene expression pattern; this RUNX1 mutation-derived signature was not exclusive for the mutation, but also included mostly adverse-risk AML [eg, 7q-, -7, inv(3), or t(3;3)].
|
21343560 |
2011 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A reciprocal translocation, t(8;21)(q22;q22), observed in the leukaemic cells of approximately 40% of patients with the M2 subtype of AML disrupts both the AML1 (CBFA2) gene on chromosome 21 and the ETO (MTG8) gene on chromosome 8 (refs 3-5).
|
9054947 |
1997 |
|
Leukemia, Myelocytic, Acute
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The activation of B-cell-specific genes, such as CD19 and PAX5, is a hallmark of t(8;21) acute myeloid leukemia (AML) which expresses the translocation product RUNX1/ETO.
|
23616623 |
2013 |