Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
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
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 AlteredExpression disease BEFREE Using this technology, we quantified the level of GAPDH and EWS-FLI1 mRNAs in EVs derived from two cell lines of peripheral primitive neuroectodermal tumor (PNET), CHLA-9 and CHLA-258. 30474100 2018
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE AES has mixed features of Ewing sarcoma (ES)/primitive neuroectodermal tumor (PNET) and adamantinoma with a complex immunoprofile and EWSR1 gene rearrangements. 29034595 2018
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE The clinical, histologic, and immunophenotypic features as well as EWSR1 rearrangement status of 19 gynecologic PNETs, including 10 ovarian, 8 uterine, and 1 vulvar tumors, are herein reported. 28296680 2017
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 Biomarker disease BEFREE Our findings suggest that cyclin D1 can be exploitable as a diagnostic adjunct to conventional markers in confirming the diagnosis of EWS/pPNET or neuroblastoma/ganglioneuroblastoma. 27984122 2017
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Cytopathological findings of primary pulmonary Ewing family of tumors with EWSR1 translocation: A case report. 27766786 2016
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Ewing's sarcoma/peripheral primitive neuroectodermal tumors (ES/pPNET) are a group of small round cell sarcomas that show varying degrees of neuroectodermal differentiation characterized by translocation involving the EWS gene.Uterine ES/pPNET is a rare entity. 25303625 2015
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
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
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 Biomarker disease BEFREE We obtained the final diagnosis of ES/PNET by immunohistochemical molecular study with positive staining for the MIC2 gene product (CD99) and a Ewing sarcoma breakpoint region 1 (EWSR1) gene rearrangement. 24158076 2013
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Study of EWS/FLI-1 rearrangement in 18 cases of CK20+/CM2B4+ Merkel cell carcinoma using FISH and correlation to the differential diagnosis of Ewing sarcoma/peripheral neuroectodermal tumor. 23165331 2013
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 Biomarker disease BEFREE This article reviews the clinicopathologic features of EWS/pPNET and desmoplastic small round cell tumor in the spectrum of tumors with EWS gene rearrangements. 22420726 2012
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 Biomarker disease BEFREE The hypothesis of a primitive peripheral neuroectodermal tumor (PPNET) located in the kidney was promptly excluded: Histologically, the tumor was a clear cell renal cell carcinoma (RCC) and we did not observe an EWSR1 gene rearrangement. 23117075 2012
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Ewing's sarcoma family tumors (ESFTs), which include peripheral primitive neuroectodermal tumors (PNETs), are characterized by chromosomal translocations that generate fusions between the EWS gene and ETS-family transcription factors, most commonly FLI1. 21979944 2012
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Molecular testing demonstrated the expression of EWS/FLI1 fusion transcripts corresponding to the t(11;22)(q24;q12) translocation, which confirmed the diagnosis of PNET of the uterine cervix. 22365564 2012
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
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
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 Biomarker disease BEFREE EWS-FLI1 fusion transcripts were detected by reverse transcriptase polymerase chain reaction and direct sequencing, confirming the diagnosis of PNET/ES. 21063743 2011
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 Biomarker disease BEFREE To the best of our knowledge, this is the first description of a fusion between EWSR1 and a chromatin-reorganizing gene in Ewing sarcoma/PNET and thus expands the EWSR1 functional partnership beyond transcription factor and zinc-finger gene families. 21113140 2011
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 Biomarker disease BEFREE The detection of the EWS-FLI1 (20/25) and EWS-ERG (4/25) fusion transcripts resolved 24 of 25 cases of Ewing sarcoma/PNET. 20231617 2010
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Detection of EWSR1 translocations - particularly t(11;22)(q24;q12) - is of great value in the differential diagnosis of the Ewing family of tumors. 20513536 2010
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Detection of SYT and EWS gene rearrangements by dual-color break-apart CISH in liquid-based cytology samples of synovial sarcoma and Ewing sarcoma/primitive neuroectodermal tumor. 20660338 2010
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 Biomarker disease BEFREE Finally, we discuss some of the potential pitfalls of this technique, including confusion with other mesenchymal neoplasms containing rearrangement of EWSR1, in particular Ewing's sarcoma/PNET. 19801966 2010
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
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
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 Biomarker disease BEFREE This undifferentiated sarcoma shows some features of Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET), including a diffuse reactivity for FLI1, but it shows only focal and weak reactivity for CD99 and is negative for a rearrangement of EWS, the molecular signature of ES/PNET. 17990934 2008
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
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
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Tumors without a rearrangement of the EWSR1 gene should be descriptively characterized as uterine tumors with neuroectodermal differentiation or alternatively central type PNETs rather than PNET, not otherwise specified to avoid confusion with peripheral PNET. 18223324 2008