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 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 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
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
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
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 GeneticVariation disease BEFREE Ewing tumours (ET), including Ewing's sarcoma and peripheral primitive neuroectodermal tumour, are well characterised at the molecular level by a unique chromosomal rearrangement which fuses the EWS gene to one of two closely related ETS proto-oncogenes, FLI-1 or ERG. 7524604 1994
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Ewing's sarcoma (ES) and primitive neuroectodermal tumor (PNET) are members of a tumor family consistently associated with chromosomal translocation and functional fusion of the EWS gene to any of several structurally related transcription factor genes. 10623711 2000
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE EWS Fli-1, a fusion gene resulting from a t(11;22) translocation is found in 90% of both Ewing's sarcoma and primitive neuroectodermal tumor (PNET). 11118299 2000
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE We identified EWS rearrangements in 8 of 10 cases (80%) of Ewing's Sarcoma/pPNET. 10078922 1999
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 AlteredExpression disease BEFREE The aim of the present study was to document EWS/ETS fusion gene expression in suspected pPNETs of adults as objective evidence for the existence of this tumor family in older patients. 9508202 1998
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Most Ewing tumors (ET), including Ewing sarcomas, peripheral primitive neuroectodermal tumors (PNET), and Askin's tumors, can be defined according to the specific chromosomal translocations t(11;22)(q24;q12) (EWS-FLI-1) or t(21;22)(q21;q12) (EWS-ERG). 9646032 1998
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 Ewing sarcoma and other peripheral primitive neuroectodermal tumors (pPNETs) display limited neural differentiation and are thought to have a neural crest origin Greater than 95% of these tumors share common t(11;22)(q24;q12) ort(21;22)(q22;q12) chromosomal translocations leading to ES/FLI1 or EWS/ERG gene fusions, respectively. 9496833 1998
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Ewing sarcoma/primitive neuroectodermal tumor (EWS/PNET) is a diagnostically challenging malignant round cell tumor with signature translocations involving the EWS gene. 16258512 2006
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 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 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
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 AlteredExpression disease BEFREE One desmoplastic small round cell tumor was found to have a variant EWS-WT1 chimeric product that included exon 8 of EWS EWS-FLI-1 chimeric RNA was present in all Ewing's sarcoma/primitive neuroectodermal tumor and not identified in any other tumor types, including desmoplastic small round cell tumor. 7495283 1995
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
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
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE In Ewing's sarcomas and related peripheral primitive neuroectodermal tumors, a t(11;22) translocation or a (21,22) rearrangement is associated with hybrid transcripts of the EWS gene with the FLI1 or ERG gene. 8022439 1994
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 AlteredExpression disease BEFREE Virtually all cases of Ewing's Sarcoma and peripheral Primitive Neuroectodermal Tumor (PNET) are associated with aberrant transcription factors which fuse amino-terminal EWS with the DNA binding moiety of an ETS transcription factor (FLI-1 in 90% of cases). 11313995 2001
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 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
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