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
Adult Malignant Peripheral Nerve Sheath Tumor
0.010 Biomarker disease BEFREE Identification of a novel fusion transcript EWSR1-VEZF1 by anchored multiplex PCR in malignant peripheral nerve sheath tumor. 31812440 2020
CUI: C0279545
Disease: Adult Epithelioid Sarcoma
Adult Epithelioid Sarcoma
0.010 Biomarker disease 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
Childhood Malignant Peripheral Nerve Sheath Tumor
0.010 Biomarker disease BEFREE Identification of a novel fusion transcript EWSR1-VEZF1 by anchored multiplex PCR in malignant peripheral nerve sheath tumor. 31812440 2020
CUI: C0279989
Disease: Childhood Epithelioid Sarcoma
Childhood Epithelioid Sarcoma
0.010 Biomarker disease 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
Malignant Peripheral Nerve Sheath Tumor
0.010 Biomarker disease BEFREE Identification of a novel fusion transcript EWSR1-VEZF1 by anchored multiplex PCR in malignant peripheral nerve sheath tumor. 31812440 2020
CUI: C0006111
Disease: Brain Diseases
Brain Diseases
0.010 Biomarker group BEFREE This will provide a better understanding of bona fide roles of EWSR1 in aging and its association with brain disorders. 30481590 2019
CUI: C0007682
Disease: CNS disorder
CNS disorder
0.010 GeneticVariation group BEFREE Recently, several studies have shown that missense mutations of EWSR1 genes are known to be associated with central nervous system disorders such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). 30481590 2019
CUI: C0026499
Disease: Monosomy
Monosomy
0.010 Biomarker group BEFREE Fluorescence in situ hybridization for EWSR1 demonstrated monosomy of 22q in greater than 90% of cells. 29944970 2019
CUI: C0027766
Disease: Nervous System Neoplasms
Nervous System Neoplasms
0.010 GeneticVariation group BEFREE The role of EWSR1-ATF1 and MUTYH mutations in central nervous system tumours is not well established. 30642852 2019
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis
0.010 AlteredExpression disease BEFREE Here, we found that EWSR1-FLI1 modulates the expression of cancer/testis (CT) antigen genes, whose expression is biased to the testes but is also activated in cancer. 31036566 2019
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.010 Biomarker disease BEFREE Notably, the splicing events of certain STS key genes were significantly associated with STS 2-year overall survival in the present study, including exon skip (ES) events in MDM2 and EWSR1, alternate terminator events in CDKN2A and HMGA2 for dedifferentiated liposarcoma, ES in MDM2 and alternate promoter events in CDKN2A for leiomyosarcoma, and ES in EWSR1 for undifferentiated pleomorphic sarcoma. 31443718 2019
Adult Undifferentiated Pleomorphic Sarcoma
0.010 Biomarker disease BEFREE Notably, the splicing events of certain STS key genes were significantly associated with STS 2-year overall survival in the present study, including exon skip (ES) events in MDM2 and EWSR1, alternate terminator events in CDKN2A and HMGA2 for dedifferentiated liposarcoma, ES in MDM2 and alternate promoter events in CDKN2A for leiomyosarcoma, and ES in EWSR1 for undifferentiated pleomorphic sarcoma. 31443718 2019
CUI: C0334121
Disease: Inflammatory Myofibroblastic Tumor
Inflammatory Myofibroblastic Tumor
0.010 GeneticVariation disease BEFREE This review addresses three main neoplastic categories that are associated with specific paraneoplastic phenomena: (1) neoplasms having in common the presence of diffuse mixed inflammatory infiltration (closely simulating an inflammatory pseudotumor) and frequently associated with constitutional symptoms; (2) neoplasms with undifferentiated, anaplastic or rhabdoid cell morphology (frequently SWI/SNF-deficient) associated with diverse paraneoplastic manifestations; and (3) paraneoplasia associated with neoplasms carrying specific gene fusions such as solitary fibrous tumor (STAT6-NAB2 gene fusions), infantile fibrosarcoma and congenital mesoblastic nephroma (ETV6-NTRK3 gene fusions), and angiomatoid fibrous histiocytoma (EWSR1-CREB1 & EWSR1-ATF1 fusions). 30819530 2019
CUI: C0334463
Disease: Malignant Fibrous Histiocytoma
Malignant Fibrous Histiocytoma
0.010 Biomarker disease BEFREE Notably, the splicing events of certain STS key genes were significantly associated with STS 2-year overall survival in the present study, including exon skip (ES) events in MDM2 and EWSR1, alternate terminator events in CDKN2A and HMGA2 for dedifferentiated liposarcoma, ES in MDM2 and alternate promoter events in CDKN2A for leiomyosarcoma, and ES in EWSR1 for undifferentiated pleomorphic sarcoma. 31443718 2019
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
0.010 Biomarker phenotype BEFREE We present a case of EWSR1-SMAD3 positive fibroblastic tumor that occurred in a 24-year-old man who presented with a recurrent tumor in the dorsum of his right foot. 31376366 2019
CUI: C1266119
Disease: Solitary fibrous tumor
Solitary fibrous tumor
0.010 GeneticVariation disease BEFREE This review addresses three main neoplastic categories that are associated with specific paraneoplastic phenomena: (1) neoplasms having in common the presence of diffuse mixed inflammatory infiltration (closely simulating an inflammatory pseudotumor) and frequently associated with constitutional symptoms; (2) neoplasms with undifferentiated, anaplastic or rhabdoid cell morphology (frequently SWI/SNF-deficient) associated with diverse paraneoplastic manifestations; and (3) paraneoplasia associated with neoplasms carrying specific gene fusions such as solitary fibrous tumor (STAT6-NAB2 gene fusions), infantile fibrosarcoma and congenital mesoblastic nephroma (ETV6-NTRK3 gene fusions), and angiomatoid fibrous histiocytoma (EWSR1-CREB1 & EWSR1-ATF1 fusions). 30819530 2019
CUI: C1304517
Disease: Extrarenal rhabdoid tumor
Extrarenal rhabdoid tumor
0.010 Biomarker disease BEFREE In light of the unusual findings in this case as well as the proximity of the EWSR1 locus and SMARCB1 locus on chromosome 22 and frequent CD99 staining in both tumors, we examined 16 ES cases and 17 ATRT, renal rhabdoid tumor (RRT), and extrarenal rhabdoid tumor (ERRT) cases for CD99 and INI1 staining and for EWSR1 rearrangement. 28382842 2019
CUI: C1332965
Disease: Congenital Mesoblastic Nephroma
Congenital Mesoblastic Nephroma
0.010 GeneticVariation disease BEFREE This review addresses three main neoplastic categories that are associated with specific paraneoplastic phenomena: (1) neoplasms having in common the presence of diffuse mixed inflammatory infiltration (closely simulating an inflammatory pseudotumor) and frequently associated with constitutional symptoms; (2) neoplasms with undifferentiated, anaplastic or rhabdoid cell morphology (frequently SWI/SNF-deficient) associated with diverse paraneoplastic manifestations; and (3) paraneoplasia associated with neoplasms carrying specific gene fusions such as solitary fibrous tumor (STAT6-NAB2 gene fusions), infantile fibrosarcoma and congenital mesoblastic nephroma (ETV6-NTRK3 gene fusions), and angiomatoid fibrous histiocytoma (EWSR1-CREB1 & EWSR1-ATF1 fusions). 30819530 2019
CUI: C1333069
Disease: Thymic Clear Cell Carcinoma
Thymic Clear Cell Carcinoma
0.010 GeneticVariation disease BEFREE EWSR1 translocation in primary hyalinising clear cell carcinoma of the thymus. 31050844 2019
Childhood Atypical Teratoid/Rhabdoid Tumor
0.010 GeneticVariation disease BEFREE ES is typically characterized by rearrangement of the EWSR1 locus and ATRT by deletion of SMARCB1. 28382842 2019
CUI: C2363902
Disease: Glioneuronal tumor
Glioneuronal tumor
0.010 Biomarker disease BEFREE EWSR1-PATZ1 gene fusion may define a new glioneuronal tumor entity. 29679497 2019
CUI: C3714644
Disease: Thymus Neoplasms
Thymus Neoplasms
0.010 GeneticVariation group BEFREE Because the immunophenotype is unspecific, testing for the EWSR1 translocation might be helpful in discriminating this entity from other thymic neoplasms or metastases, in particular those with clear cell change. 31050844 2019
Childhood Undifferentiated Pleomorphic Sarcoma
0.010 Biomarker disease BEFREE Notably, the splicing events of certain STS key genes were significantly associated with STS 2-year overall survival in the present study, including exon skip (ES) events in MDM2 and EWSR1, alternate terminator events in CDKN2A and HMGA2 for dedifferentiated liposarcoma, ES in MDM2 and alternate promoter events in CDKN2A for leiomyosarcoma, and ES in EWSR1 for undifferentiated pleomorphic sarcoma. 31443718 2019
CUI: C4727985
Disease: Ewing-like sarcoma
Ewing-like sarcoma
0.010 GeneticVariation disease BEFREE DNA methylation profiling distinguishes Ewing-like sarcoma with EWSR1-NFATc2 fusion from Ewing sarcoma. 30895378 2019
CUI: C0206727
Disease: Nerve Sheath Tumors
Nerve Sheath Tumors
0.010 GeneticVariation 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