|
Myelodysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Genetic predispositions to myeloid malignancies can be classified into three categories: familial cancer syndromes associated with increased risk of various malignancies including myelodysplasia and acute myeloid leukemia such as Li-Fraumeni syndrome and constitutional mismatch repair deficiency (CMMRD); germline mutations conferring a specific increased risk of myelodysplastic syndrome and acute myeloid leukemia such as mutations in ANKRD26, CEBPA, DDX41, ETV6, GATA2, RUNX1, SRP72 genes; and finally primarily pediatric inherited bone marrow failure syndromes such as Fanconi anemia, dyskeratosis congenita, severe congenital neutropenia, Shwachman-Diamond syndrome and Diamond Blackfan anemia.
|
31203998 |
2019 |
|
Myelodysplasia
|
0.200 |
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
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations of RUNX1 have been reported to be associated with familial platelet disorder and with a predisposition for myelodysplasia and/or acute myeloid leukemia.
|
24853048 |
2015 |
|
Myelodysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
One is a complex t(15;21)(q24;q22), with both breakpoints mapped at the nucleotide level, joining RUNX1 to SIN3A and UBL7-AS1 in a patient with myelodysplasia.
|
26671595 |
2015 |
|
Myelodysplasia
|
0.200 |
GeneticVariation
|
disease |
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 |
|
Myelodysplasia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions.
|
21325596 |
2011 |
|
Myelodysplasia
|
0.200 |
Biomarker
|
disease |
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 |
|
Myelodysplasia
|
0.200 |
Biomarker
|
disease |
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 |
|
Myelodysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
High incidence of somatic mutations in the AML1/RUNX1 gene in myelodysplastic syndrome and low blast percentage myeloid leukemia with myelodysplasia.
|
14615365 |
2004 |
|
Myelodysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations of AML1 are common in therapy-related myelodysplasia following therapy with alkylating agents and are significantly associated with deletion or loss of chromosome arm 7q and with subsequent leukemic transformation.
|
15142876 |
2004 |
|
Myelodysplasia
|
0.200 |
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
|
0.200 |
Biomarker
|
disease |
BEFREE |
The CBFA2 gene is disrupted by the (8;21), (3;21), and (12;21) chromosomal translocations associated with leukemias and myelodysplasias in humans.
|
8622955 |
1996 |
|
Myelodysplasia
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
EVI-1 expression was also detected in a subset of acute myeloid leukaemias (AMLs) and myelodysplasia.
|
8932329 |
1996 |
|
Myelodysplasia
|
0.200 |
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
|
0.200 |
GeneticVariation
|
disease |
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 |
|
Myelodysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Two genes have been implicated in leukemias of patients with abnormalities of chromosome 3, band q26: EVI1, which can be activated over long distances by chromosomal rearrangements involving 3q26, and EAP, a ribosomal gene that fuses with AML1 in a therapy-related myelodysplasia patient with a t(3;21)(q26.2;q22).
|
8171026 |
1994 |
|
Myelodysplasia
|
0.200 |
GeneticVariation
|
disease |
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 |
|
Myelodysplasia
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|