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 Ewing's sarcoma/primitive neuroectodermal tumor (EWS/PNET) has a characteristic chimeric oncogene EWS-FLI1, which results from chromosomal translocation t (11; 22), that is believed to initiate tumorigenesis of EWS/PNET. 18622580 2008
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Ewing's sarcoma and peripheral primitive neuroectodermal tumour (pPNET) are now regarded as two morphological ends of a spectrum of neoplasms, characterised by a t(11;22) or other related chromosomal translocation involving the EWS gene on chromosome 22 and referred to as Ewing family of tumours (EFTs). 17557870 2007
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Ewing sarcoma/peripheral neuroectodermal tumor (EWS/PNET), since its characterization immunophenotypically and cytogenetically, has emerged as one of most common sarcomas of childhood. 17487851 2007
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
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
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
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
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 This case is unusual in the sense of showing the typical gene fusion for pPNET/EWS both in the pretherapy sample with the typical morphological appearance of this tumor and in the posttherapy specimen showing neural differentiation suggestive of a neuroblastoma. 16944972 2006
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Ewing sarcoma/primitive neuroectodermal tumor (EWS/PNET) of the kidney is a rare and aggressive tumor. 17126256 2006
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 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
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 Biomarker disease BEFREE To apply these molecular markers to commonly available archival materials, we evaluated the feasibility of detecting EWS-Ets including EWS-Fli1 and EWS-ERG fusion transcripts in paraffin-embedded tissues and its diagnostic value for detecting ES/pPNET. 16157025 2005
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 Biomarker disease BEFREE EWS-FLI1 fusion protein up-regulates critical genes in neural crest development and is responsible for the observed phenotype of Ewing's family of tumors. 15930281 2005
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 Biomarker disease BEFREE The Ews/Fli-1 fusion gene switches the differentiation program of neuroblastomas to Ewing sarcoma/peripheral primitive neuroectodermal tumors. 14973077 2004
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 Biomarker disease BEFREE Interestingly, infection of neuroblastoma tumor cell lines with Ews/Fli-1 switches the differentiation program of neuroblastomas to Ewing's sarcoma/peripheral neuroectodermal tumors. 15492248 2004
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
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
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 Biomarker disease BEFREE Polymerase chain reaction and sequencing assessment showed the presence of EWS/FLI1 type 2 chimeric transcript, confirming the diagnosis of peripheral primitive neuroectodermal tumor. 12683899 2003
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Ewing sarcoma (ES) and peripheral primitive neuroectodermal tumors (PNETs) are associated with a chromosomal translocation resulting in a fusion of the amino-terminus of EWS with the DNA-binding domain of an ETS transcription factor (most commonly FLI1 or ERG). 12557222 2003
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 Biomarker disease BEFREE This case of PNET/EWS is unique in the sense of showing the typical fusion transcript associated with this tumor both in the morphologically typical pretherapy tumor and in the sample from the post-therapy specimen showing neuroblastoma-like features. 12883251 2003
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 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 method might also accurately diagnose ET-associated translocations other than EWS-FLI and EWS-ERG translocations. 11471459 2001
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 AlteredExpression disease BEFREE Ewing sarcoma-primitive neuroectodermal tumor (EWS/PNET) belongs to the group of pediatric small round blue cell tumors; although EWS/PNET is classically a tumor of the soft tissue or bone in children and young adults, individual cases have been described in patients of all ages. 11679946 2001
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 AlteredExpression disease BEFREE All peripheral PNET tested expressed MIC2 and were positive for EWS-FLI1 (11/11). 11304041 2001
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 GeneticVariation disease BEFREE Primitive neuroectodermal tumor (PNET) is a prototypic malignant small round cell tumor of childhood that is characterized in most cases by t(11;22) resulting in an EWS-FLI1 gene fusion. 11178636 2001
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
0.100 Biomarker disease BEFREE However, the reverse transcriptase-polymerase chain reaction (RT-PCR) demonstrated EWS/FLI-1 fusion transcripts, confirming the histopathologic diagnosis of PNET. 11261815 2001