|
Myelodysplasia
|
0.400 |
Biomarker
|
disease |
BEFREE |
We also found mutations in genes seldom reported in inherited BMF (IBMF), such as <i>SAMD9</i> and <i>SAMD9L</i> (N = 16 of the 86 patients, 18.6%), <i>MECOM/EVI1</i> (N = 6, 7.0%), and <i>ERCC6L2</i> (N = 7, 8.1%), each of which was associated with a distinct natural history; <i>SAMD9</i> and <i>SAMD9L</i> patients often experienced transient aplasia and monosomy 7, whereas <i>MECOM</i> patients presented early-onset severe aplastic anemia, and <i>ERCC6L2</i> patients, mild pancytopenia with myelodysplasia.
|
29146883 |
2018 |
|
Myelodysplasia
|
0.400 |
GeneticVariation
|
disease |
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 |
|
Myelodysplasia
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The EVI1 oncogene at human chr 3q26 is rearranged and/or overexpressed in a subset of acute myeloid leukemias and myelodysplasias.
|
24495476 |
2015 |
|
Myelodysplasia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The other child did not develop MDS despite expansion of a clone with a single insertion in the myelodysplasia syndrome 1 (MDS1) gene and was cured by early standard allo-HSCT.
|
25981636 |
2015 |
|
Myelodysplasia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Development of a dual-color, double fusion FISH assay to detect RPN1/EVI1 gene fusion associated with inv(3), t(3;3), and ins(3;3) in patients with myelodysplasia and acute myeloid leukemia.
|
20556821 |
2010 |
|
Myelodysplasia
|
0.400 |
Biomarker
|
disease |
BEFREE |
The EVI-1 gene encodes a Zn finger, DNA binding protein previously detected in some acute myelogenous leukemias (AML) and myelodysplasias (MDS), but not in normal marrow or cord blood cells.
|
9009083 |
1997 |
|
Myelodysplasia
|
0.400 |
Biomarker
|
disease |
BEFREE |
The EVI1 gene may be expressed through at least two pathways in hematologic malignancies; one is related to chromosomal changes at 3q26, while the other is related to myelodysplasia regardless of chromosomal changes at 3q26 region.
|
9031072 |
1996 |
|
Myelodysplasia
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
EVI-1 expression was also detected in a subset of acute myeloid leukaemias (AMLs) and myelodysplasia.
|
8932329 |
1996 |
|
Myelodysplasia
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
In summary, the results show that the defects in the erythroid development in a subpopulation of patients with myelodysplasia is localized at an early stage of the erythroid differentiation and is associated with the persistent expression of the CD34 antigen and, in some cases, with the expression of Evi-1.
|
8695798 |
1996 |
|
Myelodysplasia
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Our results showed that EVI1 expression was frequent in patients with post-MDS AML and AML with trilineage myelodysplasia, regardless of the presence or absence of 3q26 abnormalities.
|
7780155 |
1995 |
|
Myelodysplasia
|
0.400 |
FusionGene
|
disease |
ORPHANET |
|
|
|