|
MYELODYSPLASTIC SYNDROME
|
0.500 |
Biomarker
|
group |
BEFREE |
Four of the five tumors with high-level RUNX1 amplification were myeloid disorders--three cases of AML and one case of MDS.
|
19167608 |
2009 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
Biomarker
|
group |
BEFREE |
These results suggest a central role for CtBP in AML1-FOG2 transcriptional repression and implicate coordinated disruption of the AML1 and GATAdevelopmental programs in the pathogenesis of myelodysplasia.
|
15705784 |
2005 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
RUNX1/AML1 point mutations have been identified in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) patients.
|
21268063 |
2011 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
RUNX1 mutations occurs in 40% of myelodysplastic syndromes (MDS).
|
26384344 |
2015 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
Biomarker
|
group |
BEFREE |
Fluorescence in situ hybridization showed the amplification of the AML1 gene on regions derived from chromosome 21, providing the first evidence of amplification involving this gene in MDS.
|
10534769 |
1999 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
In mouse models, class I mutations such as the Bcr-Abl fusion kinase induce MPN by themselves and some class II mutations such as Runx1 mutations induce MDS.
|
25504228 |
2014 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The chromosome region 21q22, where AML1 maps, is involved in several other karyotypic aberrations, such as the t(3;21) translocation associated with a subset of therapy-related myelodysplastic syndromes and AML, and the blast phase of chronic myelogenous leukemia.
|
9234595 |
1997 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The t(3;21)(q26.2;q22) translocation is a rare chromosomal abnormality exhibited almost exclusively in therapy-related myelodysplastic syndrome/acute myeloid leukemia (t-MDS/AML) or in the blastic crisis phase of chronic myelogenous leukemia, which results in the fusion of the runt related transcription factor 1 (<i>RUNX1</i>, also called <i>AML1</i>) gene at 21q22 to the myelodysplasia syndrome 1 (<i>MDS1</i>)-ecotropic virus integration site 1 (<i>EVI1</i>) complex locus (<i>MECOM</i>) at 3q26.2, generating various fusion transcripts, including <i>AML1/MDS1/EVI1</i> (<i>AME</i>).
|
28693140 |
2017 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
PosttranslationalModification
|
group |
BEFREE |
To elucidate the role of epigenetics in RUNX inactivation, we evaluated promoter DNA methylation of RUNX1, 2, and 3 in 23 leukaemia cell lines and samples from acute myeloid leukaemia (AML), acute lymphocytic leukaemia (ALL) and myelodysplatic syndromes (MDS) patients.
|
25612675 |
2015 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
In this review, we summarize mutational changes of the AML1 gene in hematological malignancies, especially in MDS and discuss the mechanism whereby the mutant acts as a dominant negative inhibitor of wild-type AML1.
|
12002768 |
2002 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
Biomarker
|
group |
BEFREE |
Furthermore, an increased awareness of clinicians has helped detect a number of additional families affected by inherited myelodysplastic syndromes, resulting in the identification of novel causative mechanisms of disease, such as RUNX1 deficiency resulting from constitutional microdeletions of 21q22 and myelodysplasia-associated with telomerase deficiency.
|
21606161 |
2011 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Point mutations and deletions of RUNX1 are frequently found in myelodysplastic syndrome, myeloproliferative disease, and acute myeloid leukemia.
|
28299663 |
2017 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
Biomarker
|
group |
BEFREE |
Thirty-two percent of genes in common between the two models (2/3 NHD13 mice and 2/3 RUNX1 mice) were also hypermethylated in at least two of 19 human MDS samples.
|
24414704 |
2014 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Haploinsufficiency of the RUNX-1 gene, mapping at 21q22 is responsible for a platelet disorder and causes predisposition to myelodysplastic syndrome (MDS).
|
21671372 |
2011 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Somatic mutations in RUNX1 are preferentially detected in acute myeloid leukemia (AML) M0, myeloid malignancies with acquired trisomy 21, and certain myelodysplastic syndrome (MDS) cases.
|
17485549 |
2007 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Several regulators of signal transduction (NRAS, JAK2) and transcription factors (RUNX1, TP53) are also frequently mutated in MDS.
|
25645650 |
2015 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The 3;21 translocation in myelodysplasia results in a fusion transcript between the AML1 gene and the gene for EAP, a highly conserved protein associated with the Epstein-Barr virus small RNA EBER 1.
|
8395054 |
1993 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
A rare variant translocation t(3;8)(q29;q22) without AML1/ETO fusion transcript in a case of oligoblastic leukemia.
|
9783804 |
1998 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We screened 10 families with a history of more than one first degree relative with MDS/AML for inherited mutations in RUNX1.
|
18723428 |
2008 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Acquired molecular abnormalities (mutations or chromosomal translocations) of the RUNX1 transcription factor gene are frequent in acute myeloblastic leukemias (AMLs) and in therapy-related myelodysplastic syndromes, but rarely in acute lymphoblastic leukemias (ALLs) and chronic myelogenous leukemias (CMLs).
|
18202228 |
2008 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Recent studies are shedding light on the molecular basis of myelodysplasia and how mutations and epimutations can induce and promote this neoplastic process through aberrant transcription factor function (RUNX1, ETV6, TP53), kinase signalling (FLT3, NRAS, KIT, CBL) and epigenetic deregulation (TET2, IDH1/2, DNMT3A, EZH2, ASXL1, SF3B1, U2AF1, SRSF2, ZRSR2).
|
24903747 |
2014 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Using this approach, patients with t(8;21) (three patients with de novo AML, one with therapy-related AML, and one patient with myelodysplasia) yielded the same 222 base pair PCR product, suggesting that the breakpoints occurred at the same AML1 and ETO introns as previously reported.
|
7828132 |
1995 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
At the time of conversion to MDS, the patient had 46 chromosomes, with an 11q23/MLL translocation involving a new partner breakpoint at 2p23 and a 21q22/CBFA2 translocation involving a new partner breakpoint at 6p22.
|
10825008 |
2000 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
Biomarker
|
group |
BEFREE |
RUNX1 is a gene frequently involved in the pathogenesis of sporadic leukemia and myelodysplastic syndromes, through acquired chromosome rearrangements and point mutations.
|
15138996 |
2004 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
AlteredExpression
|
group |
BEFREE |
Furthermore, bone marrow cells from MDS/AML patients harboring the RUNX1-C-terminal mutation showed significantly lower levels of GADD45A expression compared with those from MDS/AML patients with wild-type RUNX1.
|
21836608 |
2012 |