EWSR1, EWS RNA binding protein 1, 2130

N. diseases: 251; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 Biomarker group BEFREE Results were compared to methylation data of 30 EwS with various EWSR1-ETS fusions and one EwS with FUS-ERG fusion, 16 URCS with CIC rearrangement and 10 URCS with BCOR alteration and a total of 81 EWSR1-associated soft tissue sarcomas including 7 angiomatoid fibrous histiocytomas, 7 clear cell sarcomas of the soft tissue, 28 desmoplastic small round cell tumors, 10 extraskeletal myxoid chondrosarcomas and 29 myxoid liposarcomas. 30895378 2019
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 Biomarker group BEFREE EWSR1-PATZ1 fusion positive spindle and round cell sarcomas show abundant intratumoral fibrosis and polyphenotypic differentiation, thus mimicking a range of tumors including desmoplastic small round cell tumor. 30379650 2019
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 Biomarker group BEFREE EWSR1-PATZ1 is a rare fusion partnering in sarcoma, with few cases reported in the literature. 31189996 2019
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 Biomarker group BEFREE EWSR1-PATZ1 fusion is a rare event in tumors: it was only reported in six round cell sarcomas and in three gliomas of three exclusively molecular studies. 29679497 2019
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 Biomarker group BEFREE EWSR1-NFATC2 sarcoma is a novel translocation-associated sarcoma. 30994538 2019
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 Biomarker group BEFREE Primitive round- or spindle-cell EWSR1-negative undifferentiated sarcomas harboring CIC-DUX4 gene fusion are the most common form of Ewing-like sarcomas. 28474974 2019
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 GeneticVariation group BEFREE The current version now includes PEComatous tumors, myoepithelial tumors, and pulmonary myxoid sarcomas with <i>EWSR1-CREB1</i> translocation as new disease entities. 30775024 2019
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 Biomarker group BEFREE Expression profile comparisons with tumours of other sarcoma subtypes demonstrated that both cases clustered close to EWSR1-CREB1-positive tumours. 29533464 2018
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 AlteredExpression group BEFREE Ewing's sarcoma is the second most frequent bone and soft tissue sarcoma, which is commonly driven by the Ewing's sarcoma breakpoint region 1‑friend leukemia integration 1 transcription factor (EWS‑FLI1) fusion gene. 30106161 2018
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 Biomarker group BEFREE We retrospectively reviewed all cases of histologically- and molecularly-confirmed CCSLTGT with EWSR1-CREB1 or EWSR1-ATF1 fusions at our tertiary sarcoma center, between 2009 and 2016. 29491075 2018
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 Biomarker group BEFREE In the new review all the tumors were re-classified as, ES (n=16), Ewing-like tumor with EWSR1 rearrangement and amplification and possible EWSR1-NFATC2 gene fusion (n=1), CIC-rearranged sarcomas or undifferentiated sarcoma, most consistent with CIC-rearranged sarcoma (n=7), sarcoma with BCOR-alteration or undifferentiated sarcoma, consistent with BCOR-associated sarcoma (n=3), neuroblastoma (n=2), unclassifiable neoplasm with neuroblastic differentiation (n=1), malignant rhabdoid tumor (n=2), lymphoblastic lymphoma (n=1), clear cell sarcoma of the gastrointestinal tract (n=1), small cell carcinoma (n=1), sclerosing rhabdomyosarcoma (n=1), desmoplastic small round cell tumor (n=1), malignant peripheral sheath nerve tumor (n=1), poorly-differentiated synovial sarcoma (n=1), Possible gastrointestinal stromal tumor/GIST with predominant round cells (n=1) and possible SMARCA4-deficient-sarcoma (n=1). 29661713 2018
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 Biomarker group BEFREE Recurrent gene fusions involving EWSR1 with members of the cAMP response element binding protein (CREB) family (ATF1 and CREB1) have been reported in a diverse group of tumors including angiomatoid fibrous histiocytoma (AFH), soft tissue and gastrointestinal clear cell sarcoma, primary pulmonary myxoid sarcoma, and hyalinizing clear cell carcinoma of salivary gland. 28009602 2017
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 AlteredExpression group BEFREE Using JN-DSRCT-1, a cell line derived from DSRCT expressing the EWS-WT1 fusion protein, we investigated the ability of trabectedin to modify the function of the chimeric protein, as in other sarcomas expressing fusion proteins. 28166781 2017
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 Biomarker group BEFREE We analysed the spectrum of EWSR1-rearranged soft tissue neoplasms at our tertiary sarcoma centre, by assessing ancillary molecular diagnostic modalities identifying EWSR1-rearranged tumours and reviewing the results in light of our current knowledge of these and other Ewing sarcoma-like neoplasms. 28141799 2017
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 Biomarker group 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
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 Biomarker group BEFREE A histologic comparison of the CIC-rearranged sarcomas with 20 EWSR1-rearranged Ewing sarcomas showed significantly higher degrees of lobulation, nuclear pleomorphism, the prominence of the nucleoli, spindle cell elements, and myxoid changes in the CIC-rearranged sarcomas. 26685084 2016
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 Biomarker group BEFREE Finally, we demonstrate that EWS-FLI1 contributed to secondary sarcoma development from the sarcoma iPSCs after osteogenic differentiation. 26997645 2016
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 GeneticVariation group BEFREE This chapter will focus on the unique genetic and epigenetic changes which characterize these cancers, with an emphasis on translocation-associated sarcomas involving primary gene fusions with the RNA chaperone protein EWSR1. 27865462 2016
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 GeneticVariation group BEFREE Study of alternative molecular alterations in EWSR1-negative undifferentiated small round cell sarcomas is clinically relevant, since CIC-DUX4 sarcomas seem to be a very aggressive subset with poor response to the presently used therapeutic regimens. 26386605 2015
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 Biomarker group BEFREE Tumor-specific chromosomal translocations create EWS-FLI1 and similar aberrant ETS fusion proteins that drive sarcoma development in patients. 26462019 2015
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 GeneticVariation group BEFREE Among the genes that can be rearranged, the EWSR1 gene has been identified as a partner in a wide variety of clinically and pathologically diverse sarcomas as well as some non-mesenchymal tumours. 24320889 2014
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 GeneticVariation group BEFREE All 15 (100%) Ewing sarcomas/PNET and 4 clear cell sarcomas (4/4) harbored EWSR1 translocations. 25446247 2014
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 Biomarker group BEFREE The consistent WT1 expression may provide a useful clue in the diagnosis in the context of round cell sarcomas negative for EWSR1 rearrangement. 24723486 2014
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 GeneticVariation group BEFREE Gene rearrangements involving the Ewing sarcoma breakpoint region 1 (EWSR1) gene are seen in a broad range of sarcomas and some nonmesenchymal neoplasms. 24993903 2014
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.200 Biomarker group BEFREE The identification of fusion genes such as SYT-SSX1/SSX2, PAX3-FOXO1, TPM3/TPM4-ALK and EWS-FLI1 in human sarcomas has provided important insight into the diagnosis and targeted therapy of sarcomas. 25300797 2014