|
MYELODYSPLASTIC SYNDROME
|
0.100 |
GeneticVariation
|
group |
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 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
Biomarker
|
group |
BEFREE |
Our data suggest that neoplasms carrying the t(12;22)/MN1-ETV6, although rare, can commonly present as myeloid neoplasms at the initial diagnosis, including acute myeloid leukemia (n = 8), myelodysplastic syndrome (n = 2), and myelodysplastic/myeloproliferative neoplasms (n = 2).
|
29273914 |
2018 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
Biomarker
|
group |
BEFREE |
With the advent of next generation sequencing, recurrent somatic mutations in genes involved in epigenetic regulation (TET2, ASXL1, EZH2, DNMT3A, IDH1/2), RNA splicing (SF3B1, SRSF2, U2AF1, ZRSR2), DNA damage response (TP53), transcriptional regulation (RUNX1, BCOR, ETV6) and signal transduction (CBL, NRAS, JAK2) have been identified in MDS.
|
26769228 |
2016 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
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
|
0.100 |
Biomarker
|
group |
BEFREE |
Here, we demonstrate that TEL-Syk introduced into fetal liver hematopoietic cells, which are then adoptively transferred into lethally irradiated recipients, leads to an aggressive myelodysplasia with myelofibrosis that is lethal in mice by 60-75 days.
|
24116232 |
2013 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We reported a second case of t(10;12)-positive myelodysplastic syndrome in whom fluorescent in situ hybridization confirmed the non-random translocation but molecular biology analyses revealed a ETV6/GOT1 chimera varying from the first case described.
|
18310541 |
2008 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
Biomarker
|
group |
BEFREE |
This work identifies GOT1 as a novel fusion partner of ETV6 in myelodysplastic syndrome.
|
16757412 |
2006 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Chronic myelomonocytic leukemia (CMML) is a myelodysplastic syndrome that has been associated with the expression of platelet-derived growth factor b receptor (PDGFRbeta) fusion proteins, namely TEL/PDGFRbeta.
|
12681968 |
2003 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Fluorescence in situ hybridization (FISH) analysis in a patient with myelodysplastic syndrome (MDS) revealed a t(1;12)(p36;p13) involving ETV6, with the breakpoint in this gene between exon 2 and exon 3.
|
12203785 |
2002 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
AlteredExpression
|
group |
LHGDN |
Fluorescence in situ hybridization (FISH) analysis in a patient with myelodysplastic syndrome (MDS) revealed a t(1;12)(p36;p13) involving ETV6, with the breakpoint in this gene between exon 2 and exon 3.
|
12203785 |
2002 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The fusion of the TEL gene to the Syk gene in a patient with myelodysplastic syndrome (MDS) with t(9;12)(q22;p12) is reported.
|
11159536 |
2001 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Our results suggest that a fusion gene was generated between the 5'-end of an unidentified partner at 5q13 and the 3'-end of ETV6 by t(5;12)(q13;p13), and that the interstitial deletion (12)(p11p13) occurred following t(5;12) during clonal evolution. del(12)(p11p13), including the rearranged ETV6 gene, may be implicated in the progression of MDS.
|
10867145 |
2000 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Fusion of TEL/ETV6 to a novel ACS2 in myelodysplastic syndrome and acute myelogenous leukemia with t(5;12)(q31;p13).
|
10502316 |
1999 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Several partner genes on different chromosomes have been reported to be fused with the ETV6 gene (located in chromosome band 12p13), with different breakpoints and different frequencies, in various hematologic malignancies, particularly acute myeloid and lymphoid leukemias and myelodysplastic syndromes.
|
9523197 |
1998 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
Biomarker
|
group |
BEFREE |
Deletions of CDKN1B and ETV6 in acute myeloid leukemia and myelodysplastic syndromes without cytogenetic evidence of 12p abnormalities.
|
9171997 |
1997 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Fluorescence in situ hybridization investigations proved that, in three myelodysplastic syndrome cases with t(3;12)(q26;p13), the 12p 13 breakpoint occurred within the TEL gene.
|
8695816 |
1996 |
|
MYELODYSPLASTIC SYNDROME
|
0.100 |
Biomarker
|
group |
BEFREE |
Clinicohematological data in these studies as well as the restriction mapping of chromosomal breakpoints strongly suggest that (1) common features in MDSs involving the TEL gene are monocytosis and eosinophilia, (2) chromosomes other than no.
|
7742547 |
1995 |