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: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid
0.100 Biomarker disease BEFREE EWSR1 encodes an RNA-binding protein involved in multiple soft tissue tumors, including Ewing's sarcoma/peripheral neuroectodermal tumor, desmoplastic small round cell tumor, soft tissue clear cell sarcoma (malignant melanoma of soft parts), extraskeletal myxoid chondrosarcoma, and myxoid liposarcomas. 31774608 2020
CUI: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid
0.100 GeneticVariation disease BEFREE EWSR1 rearrangements were first identified in Ewing sarcoma, but the spectrum of EWSR1-rearranged neoplasms now includes many soft tissue tumour subtypes including desmoplastic small round cell tumour (DSRCT), myxoid liposarcoma (MLPS), extraskeletal myxoid chondrosarcoma (EMC), angiomatoid fibrous histiocytoma (AFH), clear cell sarcoma (CCS) and myoepithelial neoplasms. 28141799 2017
CUI: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid
0.100 Biomarker disease BEFREE Here we studied a subgroup of sarcomas and leukaemias characterized by the FET (FUS, EWSR1, TAF15) family of fusion oncogenes, including FUS-DDIT3 in myxoid liposarcoma (MLS). 26865464 2016
CUI: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid
0.100 Biomarker disease BEFREE Myxoid liposarcoma-associated EWSR1-DDIT3 selectively represses osteoblastic and chondrocytic transcription in multipotent mesenchymal cells. 22570737 2012
CUI: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid
0.100 Biomarker disease BEFREE EWSR1 FISH was sensitive among high-grade round cell sarcomas (positive in 100% of desmoplastic small round cell tumors and 96% of Ewing sarcoma/primitive neuroectodermal tumors) but not specific because clear cell sarcoma, extraskeletal myxoid chondrosarcoma, and a subset of round cell liposarcomas also harbor rearrangements of EWSR1. 21128778 2010
CUI: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid
0.100 GeneticVariation disease BEFREE To that end, dual-color, break-apart fluorescence in situ hybridization (FISH) probes spanning the genomic regions of EWSR1 (22q12), DDIT3 (12q13), and FUS (16p11) (Vysis, Downer's Grove, IL) were evaluated in formalin-fixed, paraffin-embedded tissues from myxoid neoplasms, including intramuscular myxoma (n=10), myxoid liposarcoma (n=18), low-grade fibromyxoid sarcoma (n=10), extraskeletal myxoid chondrosarcoma (n=13), and myxofibrosarcoma (n=8). 18162764 2008
CUI: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid
0.100 GeneticVariation disease BEFREE We aimed to study the usefulness of trabectedin in the treatment of patients with myxoid liposarcomas, a subtype of liposarcoma that is associated with specific chromosomal translocations t(12;16)(q13;p11) or t(12;22)(q13;q12) that result in the formation of DDIT3-FUS or DDIT3-EWSR1 fusion proteins. 17586092 2007
CUI: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid
0.100 GeneticVariation disease BEFREE Relevance of translocation type in myxoid liposarcoma and identification of a novel EWSR1-DDIT3 fusion. 17647282 2007
CUI: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid
0.100 Biomarker disease BEFREE We describe here a case of myxoid liposarcoma containing a novel EWS-CHOP chimeric transcript and identified the breakpoint occurring in intron 13 of EWS. 16884691 2006
CUI: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid
0.100 Biomarker disease BEFREE Generation of the novel monoclonal antibody against TLS/EWS-CHOP chimeric oncoproteins that is applicable to one of the most sensitive assays for myxoid and round cell liposarcomas. 16538055 2006
CUI: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid
0.100 GeneticVariation disease BEFREE Myxoid/round cell liposarcomas (MLS/RCLS) are characterized by chromosome translocations that result in formation of FUS-CHOP or EWSR1-CHOP fusion oncogenes. 15492825 2004
CUI: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid
0.100 Biomarker disease BEFREE A novel type of EWS-CHOP fusion gene in two cases of myxoid liposarcoma. 12169678 2002
CUI: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid
0.100 Biomarker disease BEFREE Additional evidence of a variant translocation t(12;22) with EWS/CHOP fusion in myxoid liposarcoma: clinicopathological features. 9306965 1997
CUI: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid
0.100 GeneticVariation disease BEFREE We have sequenced the breakpoint regions in one acute myeloid leukemia (AML) with t(16;21)(p11;q22) resulting in the formation of a FUS/ERG hybrid gene and in four myxoid liposarcomas (MLS), three of which had the translocation t(12;16) (q13;p11) and a FUS/CHOP fusion gene and one with t(12;22;20)(q13;q12;q11) and an EWS/CHOP hybrid gene. 9315104 1997
CUI: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid
0.100 Biomarker disease BEFREE Fusion of the EWS and CHOP genes in myxoid liposarcoma. 8637704 1996
CUI: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid
0.100 GeneticVariation disease BEFREE EWS in 22q12 has a very high homology with FUS (also called TLS) in 16p11; the latter gene is rearranged in the t(12;16)(q13;p11) that characterizes myxoid liposarcoma. 7533529 1994