Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE Cytopathological findings of primary pulmonary Ewing family of tumors with EWSR1 translocation: A case report. 27766786 2016
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 Biomarker disease BEFREE EWS/FLI1 inhibition results in a novel adaptive response and suggests that targeting the IL6/STAT3 signaling pathway may increase the efficacy of ESFT therapies. 25092916 2014
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 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
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE Ewing sarcoma/peripheral primitive neuroectodermal tumor (EWS/pPNET) and other tumors with EWS gene rearrangements encompass a malignant and intermediate neoplasm with a broad anatomic distribution and a wide age range but a predilection for soft tissue in children, adolescents, and young adults. 22420726 2012
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE Ewing sarcoma family of tumors (ESFTs) are characterized by the t(11;22)(q24;q12) translocation that generates the Ewing sarcoma breakpoint region 1 and Friend leukemia virus integration 1 (EWS-FLI1) fusion transcription factor responsible for the highly malignant phenotype of this tumor. 21653923 2011
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 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 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 GeneticVariation disease BEFREE High CD99 expression levels and rearrangements of the EWS gene with ETS transcription factor genes characterize the Ewing's sarcoma family of tumors (ESFT). 16314831 2006
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 AlteredExpression disease BEFREE The Ewing sarcoma family of tumors (ESFT) is defined by cell surface expression of CD99 and a translocation involving EWS and an ETS partner. 23760780 2013
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 Biomarker disease BEFREE In addition to EWS/FLI1 gene fusion, copy number changes are known to be significant for the underlying neoplastic development of ESFT and for patient outcome. 19144156 2009
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 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
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 Biomarker disease BEFREE Fusions of ETS with the EWSR1 partner gene define many members of the Ewing family of tumors, including primitive neuroectodermal tumor (PNET). 31831298 2020
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 Biomarker disease BEFREE The aims of this study were (1) to present the diverse clinicopathological and molecular profile of EFTs in our settings, (2) to identify a pragmatic approach for diagnosing EFTs, especially for application of ancillary techniques, namely RT-PCR for specific transcripts (EWS-FLI1, EWS-ERG) and FISH for EWSR1 gene rearrangement, in certain cases and (3) to show the utility of tissue microarray in establishing a new FISH test. 24293381 2014
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 AlteredExpression disease BEFREE Ewing's sarcoma family of tumors (EFT) is characterized by the presence of chromosomal translocations leading to the expression of oncogenic transcription factors such as, in the majority of cases, EWS/FLI1. 22323082 2012
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
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 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
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE The EWS/FLI1 translocations were detected in 7/8 (87.5%) ESFTs cases, whereas non of 8 cPNET cases were detected with this translocation. 21267687 2011
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
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 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