|
MYELODYSPLASTIC SYNDROME
|
0.500 |
Biomarker
|
group |
HPO |
|
|
|
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
Biomarker
|
group |
BEFREE |
AML1/RUNX1 at 21q22 is involved in t(8;21), t(3;21), and t(16;21) in de novo and therapy-related AML and myelodysplastic syndrome as well as in t(12;21) in childhood B cell acute lymphoblastic leukemia.
|
11867721 |
2002 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
Biomarker
|
group |
BEFREE |
AML1 is frequently affected in leukemia and myelodysplastic syndrome with 21q22 translocations.
|
12874780 |
2003 |
|
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 |
GeneticVariation
|
group |
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 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
RUNX1 point mutations are common in high-risk MDS, but not in MMM.
|
15613106 |
2005 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
LHGDN |
RUNX1 point mutations are common in high-risk MDS, but not in MMM.
|
15613106 |
2005 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
RUNX1-EVI1 is a chimeric gene generated by t(3;21)(q26;q22) observed in patients with aggressive transformation of myelodysplastic syndrome or chronic myelogenous leukemia.
|
19016745 |
2008 |
|
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 point mutations predominate in those de novo AML and MDS patients with a normal karyotype in leukemic cells.
|
21294243 |
2011 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
RUNX1 mutations are more likely to subclonal; however, they apparently play a pivotal role in familial MDS.
|
25611784 |
2015 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
RUNX1 mutations occurs in 40% of myelodysplastic syndromes (MDS).
|
26384344 |
2015 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
RUNX1 mutations were associated with older age (16-59 years: 8.5%; ⩾60 years: 15.1%), male gender, more immature morphology and secondary AML evolving from myelodysplastic syndrome.
|
27137476 |
2016 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
RUNX1-PDCD6 fusion resulting from a novel t(5;21)(p15;q22) chromosome translocation in myelodysplastic syndrome secondary to chronic lymphocytic leukemia.
|
29672642 |
2018 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
Biomarker
|
group |
BEFREE |
RUNX1 deficiency has a highly variable phenotype, and MDS can occur in childhood and later in adulthood within the same families, making annual surveillance with marrow examination burdensome; however, such strategies should be discussed with affected persons, allowing an informed choice.
|
31808891 |
2019 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
RUNX1 mutation in a patient with myelodysplastic syndrome and decreased erythrocyte expression of blood group A antigen.
|
31840280 |
2020 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
AlteredExpression
|
group |
BEFREE |
EVI-1 expression was also detected in a subset of acute myeloid leukaemias (AMLs) and myelodysplasia.
|
8932329 |
1996 |
|
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 |
AlteredExpression
|
group |
BEFREE |
Abnormal expression of the Evi-1 gene and overexpression of MDS1-Evi-1 gene may play a role in the pathogenesis or progression of MDS and post-MDS AML.
|
11721451 |
1999 |
|
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 |
Activation of the Evi-1 gene was first described to be associated with the transformation of murine myeloid leukaemias and has previously been detected in cases of human acute myeloid leukaemia (AML) and chronic myeloid leukaemia (CML) in blast crises and in myelodysplastic syndromes.
|
9432037 |
1997 |
|
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 |
Considering these results, AML1 point mutations might be a useful biomarker that differentiates radio-induced MDS/AML from spontaneous MDS/AML.
|
18724045 |
2008 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
AlteredExpression
|
group |
BEFREE |
Constitutive expression of Evi-1 in hematopoietic cells, which is caused by retroviral insertions or chromosomal translocations and inversions, is closely associated with myelogenous leukemias and myelodysplastic syndromes in mice and humans.
|
10641791 |
1999 |
|
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Correlation of the activities of RUNX1 mutants with the clinical outcomes revealed that patients harboring lower activities of RUNX1 mutants had a higher risk and shorter time to secondary acute myeloid leukemia transformation in MDS and CMML.
|
25840971 |
2015 |