Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 Biomarker disease BEFREE The EWS gene, involved in Ewing family of tumors, malignant melanoma of soft parts and desmoplastic small round cell tumors, codes for an RNA binding protein with novel regulatory domains. 8084618 1994
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 Biomarker disease BEFREE EWS-erg and EWS-Fli-1, which are involved in greater than 95% of Ewing family of tumors, were shown to function as transcriptional activators. 9178886 1997
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE Ewing's sarcoma family of tumors (EFT) contain reciprocal translocations, of which approximately 90% occur between the long arm of chromosomes 11 and 22,t(11;22)(q24;q12) resulting in the formation of chimeric proteins generated by a fusion of the EWS and FLI-1 genes. 9049825 1997
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
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
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE As a result of the t(11;22)(q24;q12) chromosomal translocation characterizing the Ewing family of tumors (ET), the amino terminal portion of EWS, an RNA binding protein of unknown function, is fused to the DNA-binding domain of the ets transcription factor Fli1. 9704926 1998
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 AlteredExpression disease BEFREE Rearrangements of the EWS gene with ETS transcription factor genes as a result of chromosomal translocation and high expression levels of CD99MIC2 characterize the Ewing family of tumors (EFT). 10565682 1999
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE EWS gene rearrangements, present in essentially 100% of Ewing's Sarcoma/peripheral primitive neuroectodermal tumor, were evaluated by FISH on frozen sections (FS) of tumor biopsies from 10 patients, plus a negative control, and in seven other malignant neoplasms of childhood. 10078922 1999
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 Biomarker disease BEFREE Detection of EWS-FLI-1 fusion in Ewing's sarcoma/peripheral primitive neuroectodermal tumor by fluorescence in situ hybridization using formalin-fixed paraffin-embedded tissue. 10088552 1999
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE Here we report on cryptic exons found in the chimeric RNA of three EFT with different EWS-FLI1 fusions. 10493837 1999
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
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
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 AlteredExpression disease BEFREE Soft tissue Ewing sarcoma--peripheral primitive neuroectodermal tumor with atypical clear cell pattern shows a new type of EWS-FEV fusion transcript. 10976720 2000
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 Biomarker disease BEFREE Ewing sarcoma family of tumors share recurrent translocations that fuse EWS from 22q12 to five different members of transcription factors namely FLI-1, ERG, ETV1, E1AF and FEV. 10949935 2000
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
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
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 Biomarker disease BEFREE The ALK rearrangement may represent the molecular definition of a subgroup of mesenchymal tumors, not always with complete morphological features of IMT, similar to the model of EWS rearrangement in the Ewing sarcoma family of tumors. 11284039 2001
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 Biomarker disease BEFREE Recently, however, it was reported that by using highly sensitive nested RT-PCR, a high proportion of GCT displays chimeric EWS/FLI1 fusion transcripts, i.e., the molecular genetic feature previously known to be strongly associated with the Ewing family of tumors. 11519035 2001
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 Biomarker disease BEFREE Since a relation was reported between PDGF-C and EWS/FLI1, we sought to characterize the PDGF signaling pathway in ESFT. 12700668 2003
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
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
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
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 Biomarker disease BEFREE Ewing sarcoma family of tumors research has benefited from new target discovery and enhanced biologic understanding of the EWS-FLI1 fusion protein. 15659957 2005
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
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