EWSR1, EWS RNA binding protein 1, 2130

N. diseases: 251; N. variants: 6
Disease: Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3536893
Disease: Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 		0.100 GeneticVariation disease BEFREE The cytogenetic hallmark of the Ewing family of tumors is t(11,22)(q24;q12) in its simple, complex or variant forms and/or its molecular equivalent EWS/FLI, EWS/ERG rearrangement. 9049824 1997
CUI: C3536893
Disease: Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 		0.100 Biomarker disease BEFREE The diagnosis of EFTs is confirmed by molecular diagnostic testing showing the presence of established rearrangements of the EWS gene. 19411158 2009
CUI: C3536893
Disease: Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 		0.100 Biomarker disease BEFREE The findings also suggest that all cells of the tumors of the Ewing family carry the EWS/FLI-1 fusion transcript. 11037342 2000
CUI: C3536893
Disease: Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 		0.100 GeneticVariation disease BEFREE The genetic hallmark of ESFT is the presence of the t(11;22)(q24;q12), which creates the EWS/FLI1 fusion gene and results in the expression of a chimeric protein. 10888417 2000
CUI: C3536893
Disease: Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 		0.100 Biomarker disease BEFREE The method might also accurately diagnose ET-associated translocations other than EWS-FLI and EWS-ERG translocations. 11471459 2001
CUI: C3536893
Disease: Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 		0.100 AlteredExpression disease BEFREE The molecular hallmark of the Ewing's family of tumors is the presence of balanced chromosomal translocations, leading to the formation of chimerical transcription factors (that is, EWS/FLI1) that play a pivotal role in the pathogenesis of Ewing's tumors by deregulating gene expression. 18591936 2008
CUI: C3536893
Disease: Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 		0.100 Biomarker disease BEFREE The presence of specific EWS-FLI1 or EWS-ERG transcripts in peripheral blood (PB) samples of patients being treated for ET was prospectively evaluated, and these data were correlated to their clinical status. 9836070 1998
CUI: C3536893
Disease: Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 		0.100 GeneticVariation disease BEFREE The translocation t(11;22)(q24;q12) is the most common and leads to the formation of the EWS-FLI1 fusion protein, which contributes to ESFT pathogenesis by modulating the expression of target genes. 16096383 2005
CUI: C3536893
Disease: Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 		0.100 Biomarker disease BEFREE Therefore the production of a biologically active recombinant EWS-FLI1 could lead to discoveries that would enhance our mechanistic understanding of ESFT. 15491164 2004
CUI: C3536893
Disease: Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 		0.100 Biomarker disease BEFREE This fortifies the concept to consider EFT as a spectrum of tumors and suggests the type of EWS fusion transcripts as one, but not the only parameter influencing the extent of differentiation. 10492040 1999
CUI: C3536893
Disease: Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 		0.100 Biomarker disease BEFREE This is not a single condition, but a group of morphologically and clinically closely related disorders with similar molecular biology -- expression of tumor-specific chimeric oncoproteins through balanced chromosomal translocations involving the EWS gene -- often referred to as the Ewing family of tumors. 15877528 2005
CUI: C3536893
Disease: Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 		0.100 GeneticVariation disease BEFREE This is the first study in India with quantitative information about the types of EWS-FLI 1 translocations present in Ewing's family of tumours in south Indian patients. 16052075 2005
CUI: C3536893
Disease: Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 		0.100 Biomarker disease BEFREE This report may provide an opportunity for further evaluation of the EWS-FLI1 type 1 fusion gene and detection of prognostic significance in periosteal ESFT. 17762498 2007
CUI: C3536893
Disease: Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 		0.100 Biomarker disease BEFREE This review summarizes the current knowledge about the EWS-FLI1 pathway in EFT and provides some ideas as to how this knowledge may be translated into innovative treatment approaches. 12908547 2003
CUI: C3536893
Disease: Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 		0.100 Biomarker disease BEFREE Together, our findings offer a strong preclinical rationale to target the EWS-FLI1:PARP1 intersection as a therapeutic strategy to improve the treatment of ESFTs. 22287547 2012
CUI: C3536893
Disease: Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 		0.100 GeneticVariation disease BEFREE Together, our study represents a first approach to the separation of essential molecular consequences from noise generated by the EWS-FLI1 gene rearrangement in ESFT. 17163154 2006
CUI: C3536893
Disease: Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 		0.100 AlteredExpression disease BEFREE Using quantitative expression analysis in 16 ESFT and seven alveolar rhabdomyosarcomas (ARMS), we were able to validate the four genes previously described as direct targets of the EWSR1-FLI1 oncoprotein, showing overexpression of CAV1 and NR0B1 and underexpression of IGFBP3 and TGFBR2 in ESFT as compared to ARMS. 23185447 2012
CUI: C3536893
Disease: Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 		0.100 Biomarker disease BEFREE Using whole transcriptome sequencing, we find that 11% of tumors pathologically diagnosed as EFT lack a typical EWSR1 fusion oncogene and that these tumors do not have a characteristic Ewing sarcoma gene expression signature. 25010205 2014
CUI: C3536893
Disease: Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 		0.100 Biomarker disease BEFREE We conclude that in CNS PNET: (i) routine application of INI1 immunohistochemistry helps rule out AT/RT, particularly in infants; (ii) MYC gene amplifications (especially MYCN) are common; (iii) involvement of CNS parenchyma by Ewing sarcoma/peripheral PNET is rare enough that EWS gene testing is not necessary unless significant dural involvement is present; and (iv) both anaplastic/large cell features and polysomies of 2 and 8 are associated with more aggressive clinical behavior. 19725831 2010
CUI: C3536893
Disease: Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 		0.100 GeneticVariation disease BEFREE We retrospectively monitored tumor contamination in stem cell harvests from patients with Ewing family of tumors (EFT) all harboring the specific translocation EWS-FLI-1 that characterize these tumors. 15049010 2004
CUI: C3536893
Disease: Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 		0.100 Biomarker disease BEFREE We show that ET-743 reverses a gene signature of induced downstream targets of EWS-FLI1 in two different ESFT cell lines (P = .001). 21403840 2011