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 Fluorescence in situ hybridization was successful in all cases and confirmed EWSR1 rearrangement in 2 of 4 tumors demonstrating morphologic features of Ewing sarcoma/peripheral PNET and concurrent CD99 and Fli-1 expression. 28296680 2017
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 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 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 Biomarker disease BEFREE Impact of EWS-ETS fusion type on disease progression in Ewing's sarcoma/peripheral primitive neuroectodermal tumor: prospective results from the cooperative Euro-E.W.I.N.G. 99 trial. 20308673 2010
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 In the other case, a variety of molecular studies did not reveal a translocation involving the EWS gene but this tumour, on the balance of probability, is still considered to represent a neoplasm in the EFTs. 17557870 2007
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 Biomarker disease BEFREE In this study, we examined EWS-FLI-1 antigens for their capacity to induce immunity against a range of ESFT types. 22879388 2012
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 Biomarker disease BEFREE Molecular detection of EWS-Ets fusion transcripts and their clinicopathologic significance in Ewing's sarcoma/peripheral primitive neuroectodermal tumor. 16157025 2005
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE More than 90% of all Ewing's Sarcoma Family of Tumors (ESFT) exhibit specific chromosomal rearrangements between the EWS gene on chromosome 22 and various members of the ETS gene family of transcription factors. 20473914 2011
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 AlteredExpression disease BEFREE Nine different EWSR1-FLI1 fusion transcripts and one EWSR1-ERG fusion transcript were identified in 21 out of 23 fresh frozen EFT tissue samples. 23494411 2013
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 AlteredExpression disease BEFREE No association was found between drug resistance and the expression of EWS/ETS regulated genes in the EFT cell lines. 24312454 2013
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
0.100 GeneticVariation disease BEFREE Pathologic studies revealed an Ewing sarcoma/peripheral primitive neuroectodermal tumor (EWS/pPNET) with typical features including periodic acid Schiff positive diastase sensitive cytoplasmic substance; strong membranous pattern of immunoreactivity for CD99, and a reciprocal translocation of t(11;22)(q24;q12) that was demonstrated by fluorescent in situ hybridization (FISH). 16196395 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 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 RT-PCR to detect EWS-ETS gene arrangements is widely used to confirm the diagnosis of Ewing's family of tumors. 17272319 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 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 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 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 Ewing sarcoma breakpoint region 1 (EWSR1) gene is known to fuse with various partner genes to promote the development of the Ewing sarcoma family of tumors and other sarcomas. 27627705 2016
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 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 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 The creation of a fusion between EWSR1 and an ETS family gene consecutive to a chromosomal translocation is characteristic of the Ewing family of tumors (EFT). 22429598 2012