Ewings sarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Ewing sarcoma is consistently associated with chromosomal translocation and functional fusion of the EWSR1 gene to any of several structurally related transcription factor genes of the E26 transformation-specific family.
|
30031766 |
2018 |
Ewings sarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Fluorescence in situ hybridization (FISH) indicated a rearrangement of the EWS region on chromosome 22, which is highly specific for Ewing's sarcoma and PNET, which are referred to as the Ewing's sarcoma family of tumors (EFT).
|
17610475 |
2007 |
Ewings sarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
EWSR1-FEV translocation is exceedingly rare in Ewing sarcoma, as FEV expression is restricted to prostate, brain and serotonin neuroendocrine cells (NE) and related tumours.
|
24898918 |
2014 |
Ewings sarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Ewing sarcoma (ES) family of tumors includes bone and soft tissue tumors that are often characterized by a specific translocation between chromosome 11 and 22, resulting in the EWS-FLI1 fusion gene.
|
31275859 |
2019 |
Ewings sarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
For example, nearly all cases of Ewing's sarcoma contain the (11;22)(q24;q12) chromosomal translocation that encodes the EWS/FLI oncoprotein.
|
20543858 |
2010 |
Ewings sarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
All 30 clinical specimens had been confirmed to contain sufficient ES/PNET DNA by the demonstration of a rearrangement of the t(11;22)-associated EWS gene using an EWS cDNA probe on the same blots.
|
7738717 |
1995 |
Ewings sarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
All ES tumor DNA samples previously were confirmed to have EWS rearrangements on the same Southern blots, using a cDNA probe spanning the EWS breakpoint region.
|
10951342 |
2000 |
Ewings sarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Cytogenetic and molecular cytogenetic studies of a variant of t(21;22), ins(22;21)(q12;q21q22), with a deletion of the 3' EWSR1 gene in a patient with Ewing sarcoma.
|
15899394 |
2005 |
Ewings sarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Results suggest that using a panel of immunohistochemical markers, including NKX2.2, CD99, FLI-1, EMA, GFAP and synaptophysin, combined with the supplementary EWSR1 FISH test, helps to define the diagnosis of meningeal ES/pPNET of CNS.
|
27500883 |
2017 |
Ewings sarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We identified EWS rearrangements in 8 of 10 cases (80%) of Ewing's Sarcoma/pPNET.
|
10078922 |
1999 |
Ewings sarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
As a consequence, many alternative forms of EWSR1-ETS translocation exist which make the RNA-based molecular diagnostics of Ewing sarcoma family of tumours complicated.
|
23015660 |
2012 |
Ewings sarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We have identified a third Ewing's sarcoma translocation, the t(7;22)(p22;q12), that fuses EWS to the human homologue of the murine ETS gene ER81.
|
7700648 |
1995 |
Ewings sarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
More than 85% of Ewing's sarcoma and peripheral neuroectodermal tumor present a specific t(11;22)(q24;q12) balanced translocation, resulting in the production of a novel chimerical EWS/FLI-1 message.
|
9741544 |
1998 |
Ewings sarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Ewing's sarcoma (ES) and desmoplastic small round cell tumors (DSRCT) are small round blue cell tumors driven by an N-terminal containing EWS translocation.
|
25119929 |
2014 |
Ewings sarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The EWS/FLI-1 fusion gene, resulting from a t(11;22) translocation, plays a key role in the pathogenesis of Ewing's sarcoma.
|
10897036 |
2000 |
Ewings sarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
EWS functions in RNA splicing and transcription by encoding an RNA binding protein, which results in the chromosomal translocation t(11;22)(q24;q12) found in Ewing sarcoma.
|
22910415 |
2012 |
Ewings sarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Biphenotypic sarcomas with myogenic and neural differentiation express the Ewing's sarcoma EWS/FLI1 fusion gene.
|
7882340 |
1995 |
Ewings sarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The defining cytogenetic abnormality of Ewing's sarcoma is the presence of a balanced t(11;22) translocation expressing the EWS/FLI-1 chimeric fusion protein.
|
15183454 |
2004 |
Ewings sarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The balanced translocation t(11;22)(q24;q12) is specific for the Ewing's sarcoma/peripheral primitive neuroectodermal tumors (ES/PNETs) and results in the EWS/FLI-1 fusion transcript, which can be detected by reverse transcription polymerase chain reaction (RT-PCR).
|
10088552 |
1999 |
Ewings sarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Ewing sarcoma is characterized by a pathognomonic chromosomal translocation that generates the EWSR1-FLI1 chimeric transcription factor.
|
31036566 |
2019 |
Ewings sarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
MiniSTR marker D22S1045 (locus 22q12.3) is localized near the breakpoint region of the EWS gene (22q12.2), which leads to the development of Ewing's Sarcoma.
|
24112992 |
2013 |
Ewings sarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This interaction has functional consequences in Ewing sarcoma (ES), childhood and adolescence bone malignancies driven by fusions between EWSR1 and FLI1.
|
31577941 |
2019 |
Ewings sarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In Ewing's sarcoma and related peripheral primitive neuroectodermal tumors, a (11;22)(q24;q12) translocation is associated with hybrid transcripts of the EWS gene with the FLIl gene.
|
8875708 |
1996 |
Ewings sarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The 11;22 chromosomal translocation specifically linked to Ewing sarcoma and primitive neuroectodermal tumor results in a chimeric molecule fusing the amino-terminal-encoding portion of the EWS gene to the carboxyl-terminal DNA-binding domain encoded by the FLI1 gene.
|
8516324 |
1993 |
Ewings sarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The most common translocation in Ewing's sarcoma encodes the EWS/FLI oncogenic transcription factor.
|
18626011 |
2008 |