|
BLEEDING DISORDER, PLATELET-TYPE, 21
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features.
|
28255014 |
2017 |
|
BLEEDING DISORDER, PLATELET-TYPE, 21
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features.
|
28255014 |
2017 |
|
BLEEDING DISORDER, PLATELET-TYPE, 21
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1.
|
26316623 |
2015 |
|
BLEEDING DISORDER, PLATELET-TYPE, 21
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects.
|
24100448 |
2013 |
|
BLEEDING DISORDER, PLATELET-TYPE, 21
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
BLEEDING DISORDER, PLATELET-TYPE, 21
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
BLEEDING DISORDER, PLATELET-TYPE, 21
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
BLEEDING DISORDER, PLATELET-TYPE, 21
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Ewings sarcoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
It was recently demonstrated that the <i>EWSR1-FLI1 t(11;22)(q24;12)</i> translocation contributes to the hypersensitivity of Ewing sarcoma to PARP inhibitors, prompting clinical evaluation of olaparib in a cohort of heavily pretreated Ewing sarcoma tumors.
|
30348635 |
2019 |
|
Ewings sarcoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Adamantinoma-like Ewing sarcoma (ALES) is a rare tumor that demonstrates the EWSR1-FLI1 translocation characteristic of Ewing sarcoma despite overt epithelial differentiation including diffuse expression of cytokeratins and p40.
|
30285997 |
2019 |
|
Ewings sarcoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Despite these similarities, Ewing-like sarcomas lack the pathognomonic molecular hallmark of Ewing sarcoma: A translocation between a gene of the RNA-binding TET family (EWSR1 or FUS) with a gene of the ETS-transcription family ( FLI1, ERG, ETV1, ETV4, or FEV).
|
30257034 |
2019 |
|
Ewings sarcoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
In conclusion, the histopathological presence of Homer-Wright rosettes and immunohistochemical markers such as CD99, FLI-1 and CK are valuable factors for the diagnosis of ES, although cytogenetic analysis is considered the gold standard.
|
31788090 |
2019 |
|
Ewings sarcoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
Chromatin immunoprecipitation followed by sequencing (ChIP-seq) data for FLI1 and histone marks from EwS cell lines demonstrated that EWSR1-FLI1 binds to a GGAA-microsatellite close to CALCB, which exhibits characteristics of an active enhancer.
|
30741933 |
2019 |
|
Ewings sarcoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Next, the Ewing sarcoma tumour is found to have EWSR1 (exon 10)-FLI1 (exon 8) translocation based on NGS.
|
30819134 |
2019 |
|
Ewings sarcoma
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, knockdown of EWSR/FLI1 fusion in ES cell line A673 down-regulates the expression of the 4 key genes was revealed by GDS4962.
|
31213834 |
2019 |
|
Ewings sarcoma
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Pathologic analysis revealed a diagnosis of Ewing sarcoma based on the characteristic immunohistochemistry and the presence of EWSR1-FLI1 fusion transcript by reverse-transcription polymerase chain reaction.
|
29654955 |
2018 |
|
Ewings sarcoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
A significantly increased risk of incomplete remission in patients with positive immunostaining for ROCK2 was found (P=0.026), though no correlations with other prognostic features (huvos classification, <i>FLI1/EWS</i> status, relapse, metastasis or death) were observed.
|
29434937 |
2018 |
|
Ewings sarcoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Ewing sarcoma (EWS) is a pediatric cancer characterized by the EWSR1-FLI1 fusion.
|
30093639 |
2018 |
|
Ewings sarcoma
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Ewing's sarcoma (ES) is a highly aggressive and metastatic tumor in children and young adults caused by a chromosomal fusion between the Ewing sarcoma breakpoint region 1 (EWSR1) gene and the transcription factor FLI1 gene.
|
27740934 |
2017 |
|
Ewings sarcoma
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Exploring the mechanism of PAX7 expression in Ewing sarcoma using curated RNA- and ChIP-sequencing data, we demonstrate that the EWSR1 fusion protein is required for PAX7 expression in Ewing sarcoma and identify a candidate EWSR1-FLI1-bound PAX7 enhancer that coincides with both a consensus GGAA repeat-containing binding site and a peak of regulatory H3K27 acetylation.
|
28643791 |
2017 |
|
Ewings sarcoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We have applied this approach to the genetic modelling of t(11;22)(q24;q12) and t(11;22)(p13;q12), translocation products of the EWSR1 gene and its 3' fusion partners FLI1 and WT1, present in Ewing's sarcoma and desmoplastic small round cell tumour, respectively.
|
28188619 |
2017 |
|
Ewings sarcoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
Control cases of histologic mimics (biphasic synovial sarcoma, leiomyoma, leiomyosarcoma, desmoid-type fibromatosis, EWSR1-FLI1-positive Ewing sarcoma, Wilms' tumor, gastrointestinal stromal tumor, plexiform fibromyxoma, Sonic hedgehog-type medulloblastomas, and normal gastric mucosa and muscularis propria were also analyzed.
|
28731043 |
2017 |
|
Ewings sarcoma
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Ewing sarcoma is characterized by the expression of the chimeric EWSR1-FLI1 transcription factor.
|
28135250 |
2017 |
|
Ewings sarcoma
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
The genetics of Ewing sarcoma (ES) are characterized by a canonical fusion involving EWSR1 gene and a member of the ETS family of transcription factors, such as FLI1 and ERG.
|
26690869 |
2016 |
|
Ewings sarcoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
NKX2-2, a homeodomain transcription factor involved in neuroendocrine/glial differentiation and a downstream target of EWSR1-FLI1, has been reported as an immunohistochemical marker for Ewing sarcoma.
|
26847175 |
2016 |