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: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms
0.100 Biomarker group BEFREE In a pathogenetic sense, epithelioid soft tissue tumors basically fall into three main genetic categories: (1) switch/sucrose non-fermenting (SWI/SNF) complex-deficient tumors (with epithelioid sarcoma as their prototype); (2) epithelioid neoplasms driven by specific rare gene fusions (such as sclerosing epithelioid fibrosarcoma with EWSR1 fusions and GLI1-related malignant epithelioid soft tissue neoplasms); and (3) a heterogeneous group encompassing epithelioid variants of diverse other entities. 31686193 2020
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms
0.100 Biomarker group BEFREE EWSR1-NFATC2 Translocation-associated Sarcoma Clinicopathologic Findings in a Rare Aggressive Primary Bone or Soft Tissue Tumor. 30994538 2019
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms
0.100 Biomarker group BEFREE Ewing sarcoma (ES) are aggressive pediatric bone and soft tissue tumors driven by EWS-ETS fusion oncogenes, most commonly EWS-FLI1. 31025088 2019
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms
0.100 Biomarker group BEFREE Here, Kim and co-workers show that a chimeric protein, EWS-Oct-4, transcriptionally activates fibroblast growth factor-4 (FGF-4) and triggers a downstream cascade of oncogenic signalling pathways, thereby facilitating the initiation of human bone and soft tissue tumour development. 31400091 2019
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms
0.100 GeneticVariation group BEFREE Ewing sarcoma (ES) family of tumors includes bone and soft tissue tumors that are often characterized by a specific translocation between chromosome 11 and 22, resulting in the EWS-FLI1 fusion gene. 31275859 2019
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms
0.100 GeneticVariation group BEFREE Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumor that has been associated with EWSR1-CREB1 gene fusion. 29932283 2018
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms
0.100 Biomarker group BEFREE EWSR1-NFATC2 gene fusion in a soft tissue tumor with epithelioid round cell morphology and abundant stroma: a case report and review of the literature. 29626598 2018
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms
0.100 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: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms
0.100 Biomarker group BEFREE We assessed the specificity of NKX2-2 for Ewing sarcoma compared with other round cell malignant neoplasms and other soft tissue tumors with EWSR1 translocations. 26847175 2016
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms
0.100 Biomarker group BEFREE Atypical Ewing sarcoma breakpoint region 1 fluorescence in-situ hybridization signal patterns in bone and soft tissue tumours: diagnostic experience with 135 cases. 27385661 2016
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms
0.100 GeneticVariation group BEFREE The differential diagnosis included soft tissue malignant rhabdoid tumor, cellular extraskeletal myxoid chondrosarcoma, proximal epithelioid sarcoma, and other soft tissue tumor with EWSR1 rearrangement. 25693574 2015
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms
0.100 GeneticVariation group BEFREE This paper reviews the diversity of the several soft tissue tumour types that are associated with rearrangement of the EWSR1 gene. 24320889 2014
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms
0.100 Biomarker group BEFREE Although we acknowledge that the present molecular classification of soft tissue tumours is much more complex than two decades ago, when EWSR1 gene rearrangements had been described as the hallmark of Ewing sarcoma, we make the strong argument that with very few exceptions, the prevalence of fusion transcripts in most sarcomas is such that they come to define these entities and can be used as highly specific molecular diagnostic markers in the right clinical and pathological context. 24378390 2014
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms
0.100 Biomarker group BEFREE One of the genes most susceptible to breakage/translocation in soft tissue tumors is represented by Ewing sarcoma breakpoint region 1 (EWSR1). 23329308 2013
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms
0.100 GeneticVariation group BEFREE Positive split-signals from EWSR1, SS18 and FOXO1A probes were detected in 3% (2/64) of various histological types of carcinoma, lymphoma, melanoma, meningioma and soft tissue tumors. 22192800 2012
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms
0.100 GeneticVariation group BEFREE Soft tissue tumors associated with EWSR1 translocation. 19936782 2010
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms
0.100 Biomarker group BEFREE A EWSR1-POU5F1 fusion was identified in a pediatric soft tissue tumor by 3'Rapid Amplification of cDNA Euds (RACE) and subsequently confirmed in four additional soft tissue tumors in children and young adults. 20815032 2010
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms
0.100 Biomarker group BEFREE EWSR1 is involved in chimeric proteins which play crucial roles in the development of a variety of bone and soft tissue tumors. 19212622 2009
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms
0.100 Biomarker group BEFREE The EWSR1 gene is known to play a crucial role in the development of a number of different bone and soft tissue tumours, notably Ewing's sarcoma. 18338330 2008
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms
0.100 Biomarker group 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
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms
0.100 GeneticVariation group BEFREE The potentially diagnostic chromosomal translocations and associated genes identified in STT include Ewing's/PNET t(11;22)(q24;q12)(FLI1;EWS), t(21;22)(q22;q12)(ERG; EWS); t(7;22)(p22;q12)(ETV1;EWS); desmoplastic small round cell tumor t(11;22)(p13;q12)(WT1;EWS); extraskeletal myxoid chondrosarcoma t(9;22)(q22;q12) (TEC(CHN);EWS); malignant ectomesenchymoma t(11;22)(q24;q12)(FLI1;EWS); alveolar rhabdomyosarcoma t(2;13)(q35;q14)(PAX-3;FKHR); t(1;13) (p36;q14)(PAX-7;FKHR); myxoid and round cell liposarcoma t(12;16)(q13;p11)(CHOP;TLS(FUS)); synovial sarcoma t(X;18)(p11;q11)(SSX1&2;SYT), and others. 9344317 1997