Atlas of Genetics and Cytogenetics in Oncology and Haematology


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EWSR1 (Ewing sarcoma breakpoint region 1)

Identity

Other namesEWS
HGNC (Hugo) EWSR1
LocusID (NCBI) 2130
Location 22q12.2
Location_base_pair Starts at 29663998 and ends at 29696515 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  t(21;22)(q22;q12) R-banding - Courtesy Francine Mugneret
 
  t(11;22)(q24;q12) FISH with a double color EWSR1 probe - Courtesy Francine Mugneret

DNA/RNA

 
Description Spans 32.5 kb, in a centromere to telomere direction on plus strand; transcript of 2654 bp from 17 exons for the canonical form, with a coding sequence of 1971 nt.
Transcription According to Ensembl, there are 25 transcripts, of which 16 different transcripts code for proteins.

Protein

 
Description 656 amino acids for the canonical form identified in 1993 (Plougastel et al., 1993), 68.5 kDa. From N-term to C-term: a transactivation domain (TAD) containing multiple degenerate hexapeptide repeats (consensus SYGQQS) (glycine, glutamine, serine, tyrosine rich or SYGQ rich, where the tyrosine is mandatory): amino acids 1 to 285, with a site interacting with SF1 from aa 228 to 264 and an IQ domain, which binds calmodulin (aa 256-285), 3 arginine/glycine rich domains (RGG regions) (aa 300-340, 454-513 (arginine/glycine/proline rich), and aa 559-640), a RNA recognition motif (RRM or RNA-binding domain (RBD): aa 361-447), and a RanBP2 type Zinc finger (aa 518-549).
 
  Uniform small round cells with fine chromatin and pale eosinophilic cytoplasm (left); transmembrane glycoprotein MIC2/CD99 (right) - Courtesy Francine Mugneret
Expression EWSR1 is ubiquitely expressed (Alliegro and Alliegro, 1996; Andersson et al., 2008). In particular, EWSR1 is required for cell survival in the central nervous system (Azuma et al., 2007).
Localisation Mainly in the nucleus. It has also been found in the cytoplasm, and associated with the plasma membrane. Expression of EWSR1 in the various subcellular compartments is affected by the methylation state of its RNA-binding domain (Belyanskaya et al., 2003).
EWSR1 is mainly found in the nucleus, and more rarely in the cytoplasm than its two homologs FUS and TAF15; the 3 proteins participate in nucleo-cytoplasmic shutlling; EWSR1 localized poorly in stress granules when cells were exposed to environmental stress (stress granules are cytoplasmic particles composed of translation pre-initiation complexes, mRNAs and RNA-binding proteins) (Andersson et al., 2008), in Cajal bodies, and nucloli. Localization of EWSR1 in different subcellular compartments reflects a dynamic distribution during cell cycle: predominant nuclear localization in interphase cells, perichromosomal localization in prometaphase cells, and cytoplasmic localization in metaphase cells, association with microtubules in quiescent cells (Leemann-Zakaryan et al., 2009).
Function RNA binding protein, single strand DNA binding.
Role in transcriptional regulation for specific genes and in mRNA splicing: Transcription and pre-mRNA slicing, a post-transcriptional activity, are closely related.
EWSR1 plays a role in transcription initiation: EWSR1 is able to associate with the basal transcription factor TFIID (a multiprotein complex composed of the TATA-binding protein (TBP) and TBP-associated factors (TAFIIs)) and the RNA polymerase II complex. EWSR1 acts as a transcriptional activator (Bertolotti et al., 1998). It associates with heterogeneous RNA-binding proteins (hnRNPs), such as RBM38 and RBM39 (RNA binding motif proteins 38 and 39, 20q13 and 20q11 respectively) (Zinszner et al., 1994).
EWSR1 associates with EP300 and CREBBP. EWSR1 functions as a co-activator of CREBBP-dependent transcription factors. EWSR1-EP300/CREBBP mediates FOS activation, as well as HNF4 genes activation (Rossow and Janknecht, 2001; Araya et al., 2003). CREBBP is a transcription co-activator which enables the interaction between various transcription factors and RNA Pol II, brings enzymes to the promoter, and remodels the chromatin favouring the open status (Gervasini, 2009).
EWSR1 also activates other transcription factors such as POU4F1 (or BRN3A, 13q13) (Gascoyne et al., 2004), POU5F1 (or OCT4, 6p21) (Lee et al., 2005).
SF1 (splicing factor 1, 11q13, also called ZFM1) represses the transactivation domain of EWSR1; SF1, a transcription activator or repressor involved with many pathways, may negatively modulate transcription of target genes coordinated by EWSR1 (Zhang et al., 1998).
EWS functions as a docking molecule by recruiting serine-arginine (SR) splicing factors such as SRSF10 (serine/arginine-rich splicing factor 10, 1p36, or TASR, which represses pre-mRNA splicing) to RNA Pol II, coupling gene transcription to RNA splicing by binding to hyperphosphorylated RNA Pol II through its N-term part domain, and SR splicing factors through its C-term domain (Yang et al., 2000).
YBX1 (Y box binding protein 1, 1p34), a multifunctional protein that shuttles between the cytoplasm (where it binds to mRNA and regulates mRNA translation) and the nucleus (where it regulates transcription of diverse target genes), interacts with the C-term domain of EWS. This interaction docks YBX1 to RNA Pol II to participate in pre-mRNA splicing (Chansky et al., 2001).
SMN1 (survival of motor neuron 1, telomeric, 5q13) plays a major role in the pre-mRNA splicing machinery (role in spliceosomal snRNP assembly in the cytoplasm and in pre-mRNA splicing in the nucleus) (Pellizzoni et al., 1998). SMN1, through its Tudor region, binds the RG1 region of EWSR1 (Young et al., 2003).
RNU1-2 (RNA, U1 small nuclear 2, 1p36, also called U1C), another splicing protein, also interacts with EWSR1 (Knoop and Baker, 2000).
EWSR1 is phosphorylated by PRKC (protein kinase C) though its IQ domain, which inhibits RNA binding of EWSR1; CALM (calmodulin) binding to EWSR1 inhibits PRKC phosphorylation (Deloulme et al., 1997).
EWSR1 interacts with POU4F2 (4q31), a gene which regulates differentiation of neuronal cells (Gascoyne et al., 2004). EWSR1 interacts with LMNA (lamin A/C, 1q22, a component of the nuclear envelope which interacts with DNA, histones and transcriptional repressors) is essential for pre-B lymphocyte development and, during meiosis, in XY pairing and in meiotic recombination, as cross-overs are reduced in ews-/- spermatocytes. Loss of EWSR1 results in premature cellular senescence (Li et al., 2007). EWSR1 is required for proper localization of aurora B during mitosis, and maintains mitotic spindle integrity (Azuma et al., 2007).
It also interacts with BARD1 (BRCA1 associated RING domain 1) (Spahn et al., 2002).
EWSR1 and CCNL1 (cyclin L1, 3q25), are interacting partners of TFIP11 (tuftelin-interacting protein 11, 22q12), a protein functionally related to the spliceosome and involved in pre-mRNA splicing) (Tannukit et al., 2008).
Homology Member of the TET family of RNA binding proteins, with FUS (TLS) and TAF15 (TAFII68). TET is for Tls, Ewsr1, TafII68). TET proteins contain specific structural domains not found elsewhere in other RNA binding proteins, i.e. a N-term SYGQ rich (TAD: transactivation domain), a conserved RNA-binding domain (RRM: RNA recognition motif), RG rich regions, and a Cys2-Cys2 Zinc finger which can bind nucleic acids; they are also functionally related (reviews in Law et al., 2006; Tan and Manley, 2009).

Implicated in

Entity Various tumours (see details below)
 
  
Entity Ewing's sarcoma/Peripheral neurectodermal tumour (ES/PNET)
Note - With: t(11;22)(q24;q12) --> FLI1 - EWSR1 (Delattre et al., 1992; Bailly et al., 1994; Thomas et al., 1994; records in the Mitelman Database).
- With: t(2;22)(q36;q12) --> FEV - EWSR1 (Llombart-Bosch et al., 2000; Peter et al., 2001; Navarro et al., 2002; Hattinger et al., 1999; Wang et al., 2007).
- With: t(7;22)(p22;q12) --> ETV1 - EWSR1 (Jeon et al., 1995; Peter et al., 2001; Zielenska et al., 2001; Wang et al., 2007).
- With: t(17;22)(q21;q12) --> ETV4 - EWSR1 (Kaneko et al., 1996; Urano et al., 1996; Urano et al., 1998).
- With: t(20;22)(q13;q12) --> NFATC2 - EWSR1 (Szuhai et al., 2009).
- With: t(21;22)(q21;q12) --> ERG - EWSR1 (Dunn et al., 1994; Giovannini et al., 1994; Kaneko et al., 1997; Maire et al., 2008; Minoletti et al., 1998; Sorensen et al., 1994; Zoubek et al., 1994; Zucman et al., 1993b; Shing et al., 2003; Peter et al., 1996).
- With: inv(22)(q12q12) --> PATZ1 - EWSR1 (Mastrangelo et al., 2000)
Note: Rare cases of ES/PNET have been described without EWSR1 involvement, but, instead:
- with: t(2;16)(q35;p11) --> FUS - FEV (Navarro et al., 2002) or,
- with: t(16;21)(p11;q22) --> FUS - ERG (Shing et al., 2003; Berg et al., 2009). To be noted that the same t(16;21)(p11;q22) has been found in rare cases of acute myeloid leukaemia.
A t(11;22)(q24;q12) has also been found in a case of cerebellar PNET (Jay et al., 1996).
Disease Ewing's sarcoma/Peripheral neurectodermal tumour spectrum is a group of sarcomas with small blue round cells with more (PNET side) or less (Ewing side) features of neuroectodermal differentiation. ES/PNET entity also includes peripheral neuroepithelioma and Askin tumour. These tumours display both mesenchymal stem cell and neural crest stem cell properties. It is mainly found in adolescents and young adults. Cytogenetics and immunochemistry are essential for the differential diagnosis with other sarcomas (review in Romeo and Dei Tos, 2010).
Prognosis Prognosis has dramatically improved, from less than 10% of long survivors, to a 5-year disease free survival of 75% for patients with a localized disease, and 25-30% for those with a metastatic disease (Ludwig, 2008).
Cytogenetics The t(11;22)(q24;q12) EWSR1/FLI1 is found in 85% of cases of Ewing tumours. The t(21;22)(q21;q12) with EWSR1/ERG is the second in frequency, found in about 10% of cases.
Hybrid/Mutated Gene t(11;22)(q24;q12): 5' EWSR1 - 3' FLI1; breakpoints clustered over a 2-3 kb genomic region and over a 30-40 kb genomic region. Various junctions between EWSR1 exon 7 or 10 with FLI1 exon 5, 6, or 8. In the most common fusion type (type 1), EWSR1 exon 7 is fused in frame to FLI1 exon 6; in type 2, EWSR1 exon 7 is fused in frame to FLI1 exon 5. (Obata et al., 1999; de Alava et al., 1998).
t(21;22)(q21;q12): 5' EWSR1 - 3' ERG; the orientation of the ERG gene is from telomere to centromere, opposite to that demonstrated for EWSR1.
Other translocations: 5' EWSR1 - 3' FEV; 5' EWSR1 - 3' ETV1; 5' EWSR1 - 3' ETV4; 5' EWSR1 - 3' NFATC2; 5' EWSR1 - 3' PATZ1.
Abnormal Protein t(11;22)(q24;q12): oncogenic protein on the der(22) chromosome generated by fusion of the N terminal domain of EWSR1 protein (transactivation domain, e.g. fusion of EWSR1 amino acids 1-265) with the DNA binding domain (ETS type, amino acids 281-361) of the human FLI1 protein, a 452 amino acids protein (e.g. fusion from amino acids 260).
t(21;22)(q21;q12): oncogenic protein on the der(22) chromosome generated by fusion of the N terminal domain of EWSR1 protein with DNA binding domain of human ERG protein.
Other translocations: Most of the EWSR1 partners in ES/PNET are ETS family members (FLI1, ERG, ETV1, ETV4, FEV) and translocation results in the juxtaposition of the transactivation domain of EWSR1 with the DNA binding domain -ETS type of the partner. PATZ1 is a transcription regulator with a AT hook (DNA-binding motif), a POZ domain (mediates dimerisation) and Zn fingers (DNA-binding). NFATC2 is a cytokine inducer; translocates into the nucleus to regulate transcription.
Oncogenesis EWSR1-FLI1 is a dominant oncogene transformed cells by subverting normal transcriptional controls/FLI1 member of ETS family. The target gene repertoire of EWSR1-FLI1 varies according to the host cell type. EWSR1-FLI1 induces a TP53-dependent growth arrest in fibroblasts, supporting the importance of TP53 loss in the genesis of Ewing's tumours (Lessnick et al., 2002). EWSR1-FLI1 activates CASP3 and promotes apoptosis in mouse embryonic fibroblasts (Sohn et al., 2010). EWSR1-FLI1 induces expression of the embryonic stem cell genes OCT4, SOX2, and NANOG in paediatric mesenchymal stem cells but not in adult mesenchymal stem cells. SOX2 is a target for EWSR1-FLI1 and miRNA145 and may be critical in Ewing sarcoma pathogenesis (Riggi et al., 2010). EWSR1-FLI1 expression in a rhabdomyosarcoma cell line induced upregulation of many genes involved in neural crest differentiation, and the cell phenotype was modified, resembling ewing tumour cells (Hu-Lieskovan et al., 2005; Riggi et al., 2008). EZH2 is a target of EWSR1-FLI1. EZH2 regulates stemness and genes involved in neuroectodermal and endothelial differentiation (Richter et al., 2009). EWSR1-FLI1 induced T-cell neoplasia in committed lymphoid cells, showing that the oncogenetic potential of EWSR1-FLI1 is not restricted to pluripotent progenitors or mesenchymal cells (Codrington et al., 2005). EWSR1-FLI1 in transgenic mouse induced limb developmental defects by disruption of the normal development of connective tissues; homozygous deletion of p53 in mice provoke sarcomas, in particular osteosarcomas, introduction of EWSR1-FLI1 changed the tumour phenotype from osteosarcomas to poorly differentiated sarcomas (Lin et al., 2008). It is believed that EW/PNET arise from mesenchymal stem cells in which terminal differentiation is blocked by EWSR1-FLI1 (Tirode et al., 2007).
Transcriptional repressors such as NKX2-2 (Smith et al., 2006) or NR0B1 are induced by EWSR1-FLI1. Furthermore, EWSR1-FLI and NR0B1 physically interact (Kinsey et al., 2009). The transcriptional complex of EWSR1-FLI1 includes RNA polymerase II, CREB1 (cAMP responsive element binding protein 1) and DHX9 (RHA, RNA helicase A) (Toretsky et al., 2006; Erkizan et al., 2009). EWSR1-Ets proteins cooperatively bind DNA with FOS-JUN (Kim et al., 2006). EWSR1-FLI1 is involved in the spliceosome (review in Erkizan et al., 2010). EWSR1-FLI1 chimeric protein, but not wild EWSR1, can oppose the change in splicing pattern induced by expression of hnRNPA1 (Knoop and Baker, 2001).
EWSR1-FLI1 (dis)regulates many pathways (Jedlicka, 2010). CD99, a transmembrane protein highly expressed in Ewing sarcoma cells, has a key role in various biological functions, including inhibition of neuronal differentiation that may occur through the RAS/RAF/MAPK pathway in Ewing's tumours (Rocchi et al., 2010). PDGFC (Zwerner and May, 2001) as well as IGF1 are induced by EWSR1-FLI1, and also by EWSR1-ERG or FUS-ERG (Cironi et al., 2008). GLI1 is upregulated by EWSR1-FLI1, independently of the Hedgehog pathway (Beauchamp et al., 2009; Joo et al., 2009). Expression of DKK1 (which antagonizes Wnt signaling) is inhibited by EWSR1-FLI1 (Navarro et al., 2010), and DKK2 enhanced (Miyagawa et al., 2009). TGFbR2 is inhibited by EWSR1-FLI1 (Hahm, 1999).
Other features were summarized in Janknecht et al., 2005: EWSR1-FLI1 induces proliferation independent of exogenous growth factors (EWSR1-ETS proteins upregulate PDGFC and also CCND1), evasion of growth inhibition (downregulation of TGFbR2 may help cells escape growth surveillance), suppression of differentiation (ID2, overexpressed in Ewing tumours, is able to suppress differentiation of a variety of cells), immortality (hTERT (human telomerase reverse transcriptase)), limiting factor for telomerase activity and senescence, is upregulated by EWSR1-ETS fusion proteins), escape from apoptosis (EWSR1-FLI1 was shown to repress IGFBP-3, preventing apoptosis) (Janknecht et al., 2005).
  
Entity Desmoplastic small round cell sarcoma (DSRCT)
Note - With: t(11;22)(p13;q12) --> WT1 - EWSR1 (Ladanyi and Gerald, 1994; Gerald et al., 1995; Benjamin et al., 1996; records in the Mitelman Database).
- With: t(21;22)(q21;q12) --> ERG - EWSR1 (Ordi et al., 1998).
Disease Desmoplastic small round cell sarcoma is a small blue round cells tumour, often intra-abdominal, with a male predominance, arising in children and young adults, with a very poor prognosis. Cytogenetics and immunochemistry are essential for the differential diagnosis with other sarcomas with small blue round cells.
Cytogenetics Most of the cases are cases of t(11;22)(p13;q12).
 
t(11;22)(q24;q12) G-banding (left) and R-banding (right) - Courtesy Francine Mugneret
Hybrid/Mutated Gene t(11;22)(p13;q12): 5' EWSR1 - 3' WT1; breakpoints: between EWSR1 exons 7 and 8 and between WT1 exons 7 and 8.
t(21;22)(q21;q12): 5' EWSR1 - 3' ERG.
Abnormal Protein Transcription activator.
Oncogenesis N terminal domain of EWSR1 fused to the Zn fingers of WT1.
  
Entity Clear cell sarcoma of soft parts/malignant melanoma of soft parts (CCSSP)
Note - With: t(2;22)(q34;q12) --> CREB1 - EWSR1 (Antonescu et al., 2006; Wang et al., 2009).
- With: t(12;22)(q13;q12) --> ATF1 - EWSR1 (Zucman et al., 1993a; records in the Mitelman Database).
Disease Clear cell sarcoma of tendons and aponeuroses affects young adults. It is characterized by slow progression, with recurrences and metastases, with only 40-50% long survivors.
Hybrid/Mutated Gene 5' EWSR1 - 3' ATF1 (t(12;22)(q13;q12) cases) or, more rarely, 5' EWSR1 - 3' CREB1 (t(2;22)(q33;q12) cases).
Abnormal Protein N terminal domain of EWSR1 fused to the bZIP domain of CREB1 or ATF1.
  
Entity Angiomatoid fibrous histiocytoma (AFH)
Note - With: t(2;22)(q34;q12) --> CREB1 - EWSR1 (Antonescu et al., 2007; Shao et al., 2009; Rossi et al., 2007).
- With: t(12;22)(q13;q12) --> ATF1 - EWSR1 (Dunham et al., 2008; Hallor et al., 2005; Hallor et al., 2007; Rossi et al., 2007; Tanas et al., 2010).
Note: Cases of t(12;16)(q13;p11) with 5' FUS - 3' ATF1 have also been described (Raddaoui et al., 2002; Waters et al., 2000).
Disease Angiomatoid fibrous histiocytoma is a rare soft-tissue tumour of low metastatic potential (local recurrence below 15% of cases, and metastases occur in less than 2% of patients); it is mostly found in children and young adults. Surgical excision is the treatment of choice.
Hybrid/Mutated Gene 5' EWSR1 - 3' ATF1 (t(12;22)(q13;q12) cases), or 5' EWSR1 - 3' CREB1 (t(2;22)(q33;q12) cases).
Abnormal Protein N terminal domain of EWSR1 fused to the bZIP domain of ATF1 or CREB1.
  
Entity Extraskeletal myxoid chondrosarcoma (EMCS)
Disease Extra-skeletal myxoid chondrosarcomas represent about 5% of chondrosarcomas. There is male predominance. It affects adults mainly, in the forties or the fifties. The estimated 5-, 10-, and 15-year survival rates were 90%, 70%, and 60%, respectively (Meis-Kindblom et al., 1999).
Cytogenetics t(9;22)(q22;q12) --> NR4A3 - EWSR1 (Labelle et al., 1995; Brody et al., 1997).
Note: Cases of t(3;9)(q12;q31) --> NR4A3 - TFG (Hisaoka et al., 2004), t(9;15)(q31;q21) --> NR4A3 - TCF12 (Sjögren et al., 2000), t(9;17)(q22;q11) --> NR4A3 - TAF15 (Sjögren et al., 1999; Attwooll et al., 1999; records in the Mitelman Database) have also been reported.
Hybrid/Mutated Gene 5' EWSR1 - 3' NR4A3 (NR4A3 is also known as TEC or CHN).
  
Entity Myxoid liposarcoma/round cell liposarcoma (MLS)
Disease Myxoid liposarcoma is the most frequent type of liposarcoma, found in about half of the cases. It occurs in male and female patients equally, in their thirties to fifties. It has a relatively favorable prognosis; the variant round cell liposarcoma is much more aggressive.
Cytogenetics A t(12;22)(q13;q12) --> DDIT3 - EWSR1 (Panagopoulos et al., 1994) is found in 5% of cases, whereas a t(12;16)(q13;p11) is found in most cases.
Hybrid/Mutated Gene 5' EWSR1 - 3' DDIT3 (also called CHOP). The t(12;16)(q13;p11) with 5' FUS - 3' DDIT3 is more frequent.
Abnormal Protein Fuses the N-term transactivation domain of EWSR1 with the bZIP domain of DDIT3.
  
Entity Acute leukaemia
Disease Acute lymphoblastic leukaemia (B-cell ALL), biphenotypic leukaemia
Cytogenetics A t(12;22)(p13;q12) was found in 2 cases (Martini et al., 2002). Note: the equivalent t(12;17)(p13;q11) --> TAF15 - ZNF384 has also been found in other cases of the same series.
Hybrid/Mutated Gene 5' EWSR1 - 3' ZNF384.
Abnormal Protein Fuses the N-term transactivation domain of EWSR1 with the leucine-serine rich-proline-nuclear localization signal-Kruppel-type C2H2 Zinc finger domains of ZNF384.
  
Note EWSR1 involvement has also been described in a number of other tumours. In some instances, the diagnosis is unambiguous; in other cases, pathological diagnoses are difficult to reach, when the tumour is undifferentiated or polyphenotypic.
  
Entity Rhabdomyosarcoma (RMS)
Disease Rhabdomyosarcomas, the most common pediatric soft tissue sarcomas, are tumours related to the skeletal muscle lineage. The 2 major subtypes are alveolar rhabdomyosarcoma (ARMS) and embryonal rhabdomyosarcoma (ERMS). Most ARMS cases are characterised by either a t(2;13)(q35;q14), resulting in a PAX3 - FOXO1 hybrid gene, or a t(1;13)(p36;q14) resulting in a PAX7 - FOXO1 hybrid gene (Reichek and Barr, 2009). However, 4 cases of RMS have been described, instead, with an EWSR1 rearrangement.
Cytogenetics A t(4;22)(q35;q12) was found in a case of embryonal rhabdomyosarcoma (Sirvent et al., 2009), and a t(11;22)(q24;q12) in the other cases (Sorensen et al., 1993; Thorner et al., 1996).
Hybrid/Mutated Gene 5' EWSR1 - 3' DUX4 in the t(4;22)(q35;q12) case, and 5' EWSR1 - 3' FLI1 in the t(11;22) cases.
  
Entity Giant cell tumour of bone
Disease Locally destructive tumour, usually seen in patients over 20 years of age, with good prognosis, despite of recurrences and pulmonary metastases (Forsyth and Hogendoorn, 2003).
Cytogenetics In giant-cell tumour of bone, the most frequent finding is telomeric association. One study showed that a very minor clone with EWSR1/FLI1 translocation could be detected in most of the cases studied (Scotlandi et al., 2000).
Hybrid/Mutated Gene 5' EWSR1 - 3' FLI1.
  
Entity Myoepithelioma/myoepithelial carcinoma of soft parts
Disease Myoepithelioma tumours of soft tissue cover a wide range of tumours of various behaviour. While most are of intermediate aggressivity, some metastase.
Cytogenetics t(1;22)(q23;q12) in one case (Brandal et al., 2008), t(19;22)(q13;q12) in another case (Brandal et al., 2009).
Hybrid/Mutated Gene 5 ' EWSR1 - 3' PBX1, which fuses exons 8 from EWSR1 to exons 5 of PBX1 in the most benign case; 5' EWSR1- 3' ZNF444 in the malignant case; fuses EWSR1 exon 8 to the very near end of ZNF444.
  
Entity Hidradenoma of the skin
Disease Hidradenoma or eccrine/apocrine acrospiroma, is a benign adnexal tumour developing most often in adults. 3 cases were found with a t(6;22)(p21;q12) and/or its fusion transcript equivalent (Möller et al., 2008).
Abnormal Protein 5' EWSR1 - 3' POU5F1.
  
Entity Mucoepidermoid carcinoma of the salivary glands
Disease Mucoepidermoid carcinoma is the most common type of malignant salivary gland tumour, often associated with a t(11;19)(q21;p13) translocation with expression of chimeric genes 5' CRTC1 - 3' MAML2. One case of mucoepidermoid carcinoma was found with a t(6;22)(p21;q12) (Möller et al., 2008).
Abnormal Protein 5' EWSR1 - 3' POU5F1.
  
Entity Neuroblastoma
Disease Neuroblastomas are peripheral neuroblastic tumours derived from cells of the sympathetic nervous system. They occur mainly in infants and young children, with a median age of 1.5 years.
Hybrid/Mutated Gene Two patients, aged 3 years and 5.5 years, were described with a 5' EWSR1 - 3' FLI1 transcript in typical neuroblastomas with elevated urinary catecholamines. Prognosis had been very poor: the two patients relapsed during -or at the end of- treatment and died within 2 months (Burchill et al., 1997).
  
Entity Olfactory neuroblastoma
Disease Olfactory neuroblastoma or esthesioneuroblastoma, is a malignant neurectodermal tumour, from the olfactory neuroepithelium that typically occurs in the superior nasal cavity. It is keratin negative, neuroendocrine marker positive, and S100 positive. It arises at any age, often in the adult, with a 5-year survival rate above 50% (the 5-year overall survival for patients treated for nonmetastatic olfactory neuroblastoma was recently found at 64% (Ozsahin et al., 2010)).
Cytogenetics t(11;22)(q24;q12), inducing a 5' EWSR1 - 3' FLI1 hybrid gene (Sorensen et al., 1996). However, recent review rejects cases with EWSR1 involvement, as being misdiagnosed cases of ES/PNET (Thompson, 2009).
  
Entity Solid pseudopapillary tumour of the pancreas (SPTP)
Disease Solid pseudopapillary tumour of the pancreas is a rare epithelial tumour, typically occuring in young female patients, rarely metastasizing (Yu et al., 2010).
Cytogenetics One case showed a t(11;22)(q24;q12) (Maitra et al., 2000)
Hybrid/Mutated Gene 5' EWSR1 - 3' FLI1.
  
Entity "Small round cell tumours", "polyphenotypic mesenchymal malignancies", and "undifferentiated sarcomas"
Disease An undifferentiated sarcoma derived from pelvic bone exhibited a t(6;22)(p21;q12) with 5' EWSR1 - 3' POU5F1. This resulted in the fusion of exons 1-6 of EWSR1 and exons 2-5 and a part of exon 1 of POU5F1.The patient died 6 months after diagnosis (Yamaguchi et al., 2005).
A small round cell tumour was found to have a t(2;22)(q31;q12), with 5' EWSR1 - 3' SP3 hybrid gene; fuses the exon 7 of EWSR1 to exon 6 of SP3. N-term transactivation domain of EWSR1 fused with the Zinc fingers of SP3. The patient died 20 months after diagnosis (Wang et al., 2007).
Other cases of spindle cell tumours, small round cell poorly differentiated, biphenotypic (myogenic/neural differentiation), or polyphenotypic sarcomas present with the classical t(11;22)(q24;q12) / 5' EWSR1 - 3' FLI1 or other variants, such as the t(2;22)(q36;q12) / 5' EWSR1 - 3' FEV (Wang et al., 2007), the t(11;22)(p13;q12) / 5' EWSR1 - 3' WT1 (Alaggio et al., 2007), the t(12;22)(q13;q12) / 5' EWSR1 - 3' ATF1 (Somers et al., 2005), or the t(21;22)(q21;q12) / 5' EWSR1 - 3' ERG (Tan et al., 2001).
  

Breakpoints

 
Note Clustered over a 2.3 kb genomic region.

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615 11q23ID1030

Other Solid tumors implicated (Data extracted from papers in the Atlas)

Solid Tumors AmeloblastomID5945 MedulloblastomaID5065 rhab5004 rhabID5004 blad5001
bladID5001 colon5006 colonID5006 EmbryoRhabdomyoID5193 IrisHamartomaID5100
OvaryEpithTumID5230 rhab5004 rhabID5004 SkinMelanomID5416 ConvOsteoID5344
OvarianGermCellID5067 AlvRhabdomyosarcID5194 blad5001 bladID5001 rhab5004
rhabID5004 SalivGlandOverviewID5328 softissuTumID5042 AstrocytID5007 BoneTumorID5143
ConvOsteoID5344 LaryngealOverviewID5087 liposarc5029 liposarcID5029 OsteoblastomaID5343
OsteosarcID5043

External links

Nomenclature
HGNC (Hugo)EWSR1   3508
Cards
AtlasEWSR1ID85
Entrez_Gene (NCBI)EWSR1  2130  EWS RNA-binding protein 1
GeneCards (Weizmann)EWSR1
Ensembl (Hinxton)ENSG00000182944 [Gene_View]  chr22:29663998-29696515 [Contig_View]  EWSR1 [Vega]
ICGC DataPortalENSG00000182944
cBioPortalEWSR1
AceView (NCBI)EWSR1
Genatlas (Paris)EWSR1
WikiGenes2130
SOURCE (Princeton)NM_001163285 NM_001163286 NM_001163287 NM_005243 NM_013986
Genomic and cartography
GoldenPath (UCSC)EWSR1  -  22q12.2   chr22:29663998-29696515 +  22q12.2   [Description]    (hg19-Feb_2009)
EnsemblEWSR1 - 22q12.2 [CytoView]
Mapping of homologs : NCBIEWSR1 [Mapview]
OMIM133450   612219   
Gene and transcription
Genbank (Entrez)AI564543 AK026270 AK056309 AK056681 AK096787
RefSeq transcript (Entrez)NM_001163285 NM_001163286 NM_001163287 NM_005243 NM_013986
RefSeq genomic (Entrez)AC_000154 NC_000022 NC_018933 NG_023240 NT_011520 NW_001838745 NW_004929430
Consensus coding sequences : CCDS (NCBI)EWSR1
Cluster EST : UnigeneHs.374477 [ NCBI ]
CGAP (NCI)Hs.374477
Alternative Splicing : Fast-db (Paris)GSHG0019932
Alternative Splicing GalleryENSG00000182944
Gene ExpressionEWSR1 [ NCBI-GEO ]     EWSR1 [ SEEK ]   EWSR1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01844 (Uniprot)
NextProtQ01844  [Medical]
With graphics : InterProQ01844
Splice isoforms : SwissVarQ01844 (Swissvar)
Domaine pattern : Prosite (Expaxy)RRM (PS50102)    ZF_RANBP2_1 (PS01358)    ZF_RANBP2_2 (PS50199)   
Domains : Interpro (EBI)Nucleotide-bd_a/b_plait [organisation]   RRM_dom [organisation]   Znf_RanBP2 [organisation]  
Related proteins : CluSTrQ01844
Domain families : Pfam (Sanger)zf-RanBP (PF00641)   
Domain families : Pfam (NCBI)pfam00641   
Domain families : Smart (EMBL)RRM (SM00360)  ZnF_RBZ (SM00547)  
DMDM Disease mutations2130
Blocks (Seattle)Q01844
PDB (SRS)2CPE   
PDB (PDBSum)2CPE   
PDB (IMB)2CPE   
PDB (RSDB)2CPE   
Human Protein AtlasENSG00000182944 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ01844
HPRD00592
IPIIPI00872855   IPI00293254   IPI00953325   IPI00382400   IPI00879259   IPI00335961   IPI00879242   IPI00065554   IPI00879646   IPI00956178   IPI01026467   IPI00880108   IPI00878187   IPI00877697   IPI00878484   IPI00009841   
Protein Interaction databases
DIP (DOE-UCLA)Q01844
IntAct (EBI)Q01844
FunCoupENSG00000182944
BioGRIDEWSR1
InParanoidQ01844
Interologous Interaction database Q01844
IntegromeDBEWSR1
STRING (EMBL)EWSR1
Ontologies - Pathways
Ontology : AmiGOnucleotide binding  RNA binding  protein binding  calmodulin binding  nucleus  cytoplasm  plasma membrane  transcription, DNA-templated  regulation of transcription, DNA-templated  zinc ion binding  identical protein binding  poly(A) RNA binding  
Ontology : EGO-EBInucleotide binding  RNA binding  protein binding  calmodulin binding  nucleus  cytoplasm  plasma membrane  transcription, DNA-templated  regulation of transcription, DNA-templated  zinc ion binding  identical protein binding  poly(A) RNA binding  
Pathways : KEGGTranscriptional misregulation in cancer   
Protein Interaction DatabaseEWSR1
Wikipedia pathwaysEWSR1
Gene fusion - rearrangments
Rearrangement : COSMICATF1 [12q13.12]  -  EWSR1 [22q12.2]  
  [COSF258] [COSF259] [COSF260] [COSF286] 
Rearrangement : COSMICEWSR1 [22q12.2]  -  ATF1 [12q13.12]  
  [COSF217] [COSF218] [COSF219] [COSF220] [COSF222] [COSF223] [COSF224] [COSF243] [COSF250] 
  [COSF251] [COSF252] [COSF253] [COSF254] [COSF256] [COSF257] [COSF299] 
Rearrangement : COSMICEWSR1 [22q12.2]  -  CREB1 [2q33.3]  
  [COSF264] [COSF265] [COSF266] [COSF267] [COSF268] 
Rearrangement : COSMICEWSR1 [22q12.2]  -  DDIT3 [12q13.3]  
  [COSF269] [COSF270] [COSF271] [COSF272] [COSF273] [COSF274] [COSF281] [COSF282] [COSF284] 
  [COSF328] [COSF837] 
Rearrangement : COSMICEWSR1 [22q12.2]  -  ERG [21q22.2]  
  [COSF145] [COSF146] [COSF149] [COSF150] [COSF151] [COSF152] [COSF154] [COSF155] [COSF156] 
  [COSF159] [COSF161] [COSF162] 
Rearrangement : COSMICEWSR1 [22q12.2]  -  ETV1 [7p21.2]  
  [COSF163] [COSF164] [COSF197] 
Rearrangement : COSMICEWSR1 [22q12.2]  -  ETV4 [17q21.31]  
  [COSF208] [COSF209] [COSF280] [COSF285] 
Rearrangement : COSMICEWSR1 [22q12.2]  -  FEV [2q35]  
  [COSF1304] [COSF195] [COSF196] [COSF275] [COSF276] 
Rearrangement : COSMICEWSR1 [22q12.2]  -  FLI1 [11q24.3]  
  [COSF1302] [COSF1303] [COSF165] [COSF166] [COSF167] [COSF168] [COSF169] [COSF170] [COSF171] 
  [COSF172] [COSF173] [COSF174] [COSF175] [COSF176] [COSF177] [COSF178] [COSF179] 
  [COSF180] [COSF181] [COSF182] [COSF183] [COSF184] [COSF185] [COSF204] [COSF205] 
  [COSF227] [COSF228] 
Rearrangement : COSMICEWSR1 [22q12.2]  -  NFATC1 [18q23]  
  [COSF1436] [COSF1437] 
Rearrangement : COSMICEWSR1 [22q12.2]  -  NFATC2 [20q13.2]  
  [COSF1180] [COSF1181] [COSF1184] 
Rearrangement : COSMICEWSR1 [22q12.2]  -  NR4A3 [9q22.33]  
  [COSF352] [COSF353] [COSF355] [COSF356] [COSF358] [COSF359] [COSF361] [COSF364] [COSF365] 
  [COSF366] [COSF367] [COSF369] [COSF370] [COSF371] [COSF374] [COSF375] [COSF376] 
  [COSF378] [COSF380] [COSF381] [COSF397] [COSF398] [COSF399] [COSF400] [COSF496] 
 
Rearrangement : COSMICEWSR1 [22q12.2]  -  PATZ1 [22q12.2]  
  [COSF283] [COSF308] 
Rearrangement : COSMICEWSR1 [22q12.2]  -  PBX1 [1q23.3]  
  [COSF1344] [COSF349] [COSF350] [COSF351] 
Rearrangement : COSMICEWSR1 [22q12.2]  -  POU5F1 [6p21.33]  
  [COSF1305] [COSF1306] [COSF322] [COSF323] [COSF324] 
Rearrangement : COSMICEWSR1 [22q12.2]  -  SMARCA5 [4q31.21]  
  [COSF1208] [COSF1209] 
Rearrangement : COSMICEWSR1 [22q12.2]  -  SP3 [2q31.1]  
  [COSF278] [COSF279] 
Rearrangement : COSMICEWSR1 [22q12.2]  -  WT1 [11p13]  
  [COSF186] [COSF187] [COSF188] [COSF189] [COSF190] [COSF191] [COSF192] [COSF193] [COSF194] 
  [COSF225] [COSF226] [COSF230] [COSF231] [COSF239] [COSF240] [COSF241] [COSF249] 
 
Rearrangement : COSMICEWSR1 [22q12.2]  -  YY1 [14q32.2]  
  [COSF1421] [COSF1422] 
Rearrangement : COSMICEWSR1 [22q12.2]  -  ZNF384 [12p13.31]  
  [COSF345] [COSF346] [COSF347] [COSF348] 
Rearrangement : COSMICEWSR1 [22q12.2]  -  ZNF444 [19q13.43]  
  [COSF1342] [COSF1343] [COSF1345] 
Rearrangement : COSMICNFATC1 [18q23]  -  EWSR1 [22q12.2]  
  [COSF1438] 
Rearrangement : COSMICNFATC2 [20q13.2]  -  EWSR1 [22q12.2]  
  [COSF1182] [COSF1183] 
Rearrangement : COSMICNR4A3 [9q22.33]  -  EWSR1 [22q12.2]  
  [COSF386] [COSF401] [COSF402] 
Rearrangement : COSMICYY1 [14q32.2]  -  EWSR1 [22q12.2]  
  [COSF1423] [COSF1439] 
Rearrangement : TICdbEWSR1 [22q12.2]  -  ATF1 [4p16.3]
Rearrangement : TICdbEWSR1 [22q12.2]  -  CREB1 [4q12]
Rearrangement : TICdbEWSR1 [22q12.2]  -  DDIT3 [17q21.2]
Rearrangement : TICdbEWSR1 [22q12.2]  -  ERG [2q36.1]
Rearrangement : TICdbEWSR1 [22q12.2]  -  ETV1 [9q34.12]
Rearrangement : TICdbEWSR1 [22q12.2]  -  ETV4 [12q13.12]
Rearrangement : TICdbEWSR1 [22q12.2]  -  FEV [11p11.2]
Rearrangement : TICdbEWSR1 [22q12.2]  -  FLI1 [7q33]
Rearrangement : TICdbEWSR1 [22q12.2]  -  NFATC2 [12q13.3]
Rearrangement : TICdbEWSR1 [22q12.2]  -  NR4A3 [21q22.2]
Rearrangement : TICdbEWSR1 [22q12.2]  -  PATZ1 [2q35]
Rearrangement : TICdbEWSR1 [22q12.2]  -  PBX1 [3q27.3]
Rearrangement : TICdbEWSR1 [22q12.2]  -  POU5F1 [5q32]
Rearrangement : TICdbEWSR1 [22q12.2]  -  SMARCA5 [5q32]
Rearrangement : TICdbEWSR1 [22q12.2]  -  SP3 [10q11.21]
Rearrangement : TICdbEWSR1 [22q12.2]  -  WT1 [6q22.1]
Rearrangement : TICdbEWSR1 [22q12.2]  -  ZNF444 [8q13.3]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)EWSR1
snp3D : Map Gene to Disease2130
SNP (GeneSNP Utah)EWSR1
SNP : HGBaseEWSR1
Genetic variants : HAPMAPEWSR1
Exome VariantEWSR1
1000_GenomesEWSR1 
ICGC programENSG00000182944 
Cancer Gene: CensusEWSR1 
Somatic Mutations in Cancer : COSMICEWSR1 
CONAN: Copy Number AnalysisEWSR1 
Mutations and Diseases : HGMDEWSR1
Mutations and Diseases : intOGenEWSR1
Genomic VariantsEWSR1  EWSR1 [DGVbeta]
dbVarEWSR1
ClinVarEWSR1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM133450    612219   
MedgenEWSR1
GENETestsEWSR1
Disease Genetic AssociationEWSR1
Huge Navigator EWSR1 [HugePedia]  EWSR1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneEWSR1
Homology/Alignments : Family Browser (UCSC)EWSR1
Phylogenetic Trees/Animal Genes : TreeFamEWSR1
Chemical/Protein Interactions : CTD2130
Chemical/Pharm GKB GenePA27921
Clinical trialEWSR1
Cancer Resource (Charite)ENSG00000182944
Other databases
Probes
Litterature
PubMed197 Pubmed reference(s) in Entrez
CoreMineEWSR1
iHOPEWSR1
OncoSearchEWSR1

Bibliography

Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours.
Delattre O, Zucman J, Plougastel B, Desmaze C, Melot T, Peter M, Kovar H, Joubert I, de Jong P, Rouleau G, et al.
Nature. 1992 Sep 10;359(6391):162-5.
PMID 1522903
 
Genomic structure of the EWS gene and its relationship to EWSR1, a site of tumor-associated chromosome translocation.
Plougastel B, Zucman J, Peter M, Thomas G, Delattre O.
Genomics. 1993 Dec;18(3):609-15.
PMID 8307570
 
Reverse transcriptase PCR amplification of EWS/FLI-1 fusion transcripts as a diagnostic test for peripheral primitive neuroectodermal tumors of childhood.
Sorensen PH, Liu XF, Delattre O, Rowland JM, Biggs CA, Thomas G, Triche TJ.
Diagn Mol Pathol. 1993 Sep;2(3):147-57.
PMID 7506981
 
EWS and ATF-1 gene fusion induced by t(12;22) translocation in malignant melanoma of soft parts.
Zucman J, Delattre O, Desmaze C, Epstein AL, Stenman G, Speleman F, Fletchers CD, Aurias A, Thomas G.
Nat Genet. 1993a Aug;4(4):341-5.
PMID 8401579
 
Combinatorial generation of variable fusion proteins in the Ewing family of tumours.
Zucman J, Melot T, Desmaze C, Ghysdael J, Plougastel B, Peter M, Zucker JM, Triche TJ, Sheer D, Turc-Carel C, et al.
EMBO J. 1993b Dec;12(12):4481-7.
PMID 8223458
 
DNA-binding and transcriptional activation properties of the EWS-FLI-1 fusion protein resulting from the t(11;22) translocation in Ewing sarcoma.
Bailly RA, Bosselut R, Zucman J, Cormier F, Delattre O, Roussel M, Thomas G, Ghysdael J.
Mol Cell Biol. 1994 May;14(5):3230-41.
PMID 8164678
 
ERG gene is translocated in an Ewing's sarcoma cell line.
Dunn T, Praissman L, Hagag N, Viola MV.
Cancer Genet Cytogenet. 1994 Aug;76(1):19-22.
PMID 8076344
 
EWS-erg and EWS-Fli1 fusion transcripts in Ewing's sarcoma and primitive neuroectodermal tumors with variant translocations.
Giovannini M, Biegel JA, Serra M, Wang JY, Wei YH, Nycum L, Emanuel BS, Evans GA.
J Clin Invest. 1994 Aug;94(2):489-96.
PMID 8040301
 
Fusion of the EWS and WT1 genes in the desmoplastic small round cell tumor.
Ladanyi M, Gerald W.
Cancer Res. 1994 Jun 1;54(11):2837-40.
PMID 8187063
 
Characterization of the CHOP breakpoints and fusion transcripts in myxoid liposarcomas with the 12;16 translocation.
Panagopoulos I, Mandahl N, Ron D, Hoglund M, Nilbert M, Mertens F, Mitelman F, Aman P.
Cancer Res. 1994 Dec 15;54(24):6500-3.
PMID 7987849
 
A second Ewing's sarcoma translocation, t(21;22), fuses the EWS gene to another ETS-family transcription factor, ERG.
Sorensen PH, Lessnick SL, Lopez-Terrada D, Liu XF, Triche TJ, Denny CT.
Nat Genet. 1994 Feb;6(2):146-51.
PMID 8162068
 
Genetic alterations in the chromosome 22q12 region associated with development of neuroectodermal tumors.
Thomas G, Delattre O, Zucman J, Merel P, Desmaze C, Melot T, Sanson M, Hoang-Xuan K, Plougastel B, Dejong P, et al.
Cold Spring Harb Symp Quant Biol. 1994;59:555-64.
PMID 7587112
 
A novel effector domain from the RNA-binding protein TLS or EWS is required for oncogenic transformation by CHOP.
Zinszner H, Albalat R, Ron D.
Genes Dev. 1994 Nov 1;8(21):2513-26.
PMID 7958914
 
Variability of EWS chimaeric transcripts in Ewing tumours: a comparison of clinical and molecular data.
Zoubek A, Pfleiderer C, Salzer-Kuntschik M, Amann G, Windhager R, Fink FM, Koscielniak E, Delattre O, Strehl S, Ambros PF, et al.
Br J Cancer. 1994 Nov;70(5):908-13.
PMID 7524604
 
Characterization of the genomic breakpoint and chimeric transcripts in the EWS-WT1 gene fusion of desmoplastic small round cell tumor.
Gerald WL, Rosai J, Ladanyi M.
Proc Natl Acad Sci U S A. 1995 Feb 14;92(4):1028-32.
PMID 7862627
 
A variant Ewing's sarcoma translocation (7;22) fuses the EWS gene to the ETS gene ETV1.
Jeon IS, Davis JN, Braun BS, Sublett JE, Roussel MF, Denny CT, Shapiro DN.
Oncogene. 1995 Mar 16;10(6):1229-34.
PMID 7700648
 
Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation.
Labelle Y, Zucman J, Stenman G, Kindblom LG, Knight J, Turc-Carel C, Dockhorn-Dworniczak B, Mandahl N, Desmaze C, Peter M, et al.
Hum Mol Genet. 1995 Dec;4(12):2219-26.
PMID 8634690
 
A nuclear protein regulated during the transition from active to quiescent phenotype in cultured endothelial cells.
Alliegro MC, Alliegro MA.
Dev Biol. 1996 Mar 15;174(2):288-97.
PMID 8631501
 
Fusion of the EWS1 and WT1 genes as a result of the t(11;22)(p13;q12) translocation in desmoplastic small round cell tumors.
Benjamin LE, Fredericks WJ, Barr FG, Rauscher FJ 3rd.
Med Pediatr Oncol. 1996 Nov;27(5):434-9. (REVIEW)
PMID 8827070
 
An unusual cerebellar primitive neuroectodermal tumor with t(11;22) translocation: pathological and molecular analysis.
Jay V, Zielenska M, Lorenzana A, Drake J.
Pediatr Pathol Lab Med. 1996 Jan-Feb;16(1):119-28.
PMID 8963622
 
Fusion of an ETS-family gene, EIAF, to EWS by t(17;22)(q12;q12) chromosome translocation in an undifferentiated sarcoma of infancy.
Kaneko Y, Yoshida K, Handa M, Toyoda Y, Nishihira H, Tanaka Y, Sasaki Y, Ishida S, Higashino F, Fujinaga K.
Genes Chromosomes Cancer. 1996 Feb;15(2):115-21.
PMID 8834175
 
An EWS/ERG fusion with a truncated N-terminal domain of EWS in a Ewing's tumor.
Peter M, Mugneret F, Aurias A, Thomas G, Magdelenat H, Delattre O.
Int J Cancer. 1996 Jul 29;67(3):339-42.
PMID 8707406
 
Olfactory neuroblastoma is a peripheral primitive neuroectodermal tumor related to Ewing sarcoma.
Sorensen PH, Wu JK, Berean KW, Lim JF, Donn W, Frierson HF, Reynolds CP, Lopez-Terrada D, Triche TJ.
Proc Natl Acad Sci U S A. 1996 Feb 6;93(3):1038-43.
PMID 8577710
 
Is the EWS/FLI-1 fusion transcript specific for Ewing sarcoma and peripheral primitive neuroectodermal tumor? A report of four cases showing this transcript in a wider range of tumor types.
Thorner P, Squire J, Chilton-MacNeil S, Marrano P, Bayani J, Malkin D, Greenberg M, Lorenzana A, Zielenska M.
Am J Pathol. 1996 Apr;148(4):1125-38.
PMID 8644855
 
A novel chimera gene between EWS and E1A-F, encoding the adenovirus E1A enhancer-binding protein, in extraosseous Ewing's sarcoma.
Urano F, Umezawa A, Hong W, Kikuchi H, Hata J.
Biochem Biophys Res Commun. 1996 Feb 15;219(2):608-12.
PMID 8605035
 
Molecular analysis of the fusion of EWS to an orphan nuclear receptor gene in extraskeletal myxoid chondrosarcoma.
Brody RI, Ueda T, Hamelin A, Jhanwar SC, Bridge JA, Healey JH, Huvos AG, Gerald WL, Ladanyi M.
Am J Pathol. 1997 Mar;150(3):1049-58.
PMID 9060841
 
EWS-FLI1 fusion transcripts identified in patients with typical neuroblastoma.
Burchill SA, Wheeldon J, Cullinane C, Lewis IJ.
Eur J Cancer. 1997 Feb;33(2):239-43.
PMID 9135495
 
The prooncoprotein EWS binds calmodulin and is phosphorylated by protein kinase C through an IQ domain.
Deloulme JC, Prichard L, Delattre O, Storm DR.
J Biol Chem. 1997 Oct 24;272(43):27369-77.
PMID 9341188
 
Multiple chromosomal mechanisms generate an EWS/FLI1 or an EWS/ERG fusion gene in Ewing tumors.
Desmaze C, Brizard F, Turc-Carel C, Melot T, Delattre O, Thomas G, Aurias A.
Cancer Genet Cytogenet. 1997 Aug;97(1):12-9.
PMID 9242212
 
EWS-ERG fusion transcript produced by chromosomal insertion in a Ewing sarcoma.
Kaneko Y, Kobayashi H, Handa M, Satake N, Maseki N.
Genes Chromosomes Cancer. 1997 Mar;18(3):228-31.
PMID 9071576
 
EWS, but not EWS-FLI-1, is associated with both TFIID and RNA polymerase II: interactions between two members of the TET family, EWS and hTAFII68, and subunits of TFIID and RNA polymerase II complexes.
Bertolotti A, Melot T, Acker J, Vigneron M, Delattre O, Tora L.
Mol Cell Biol. 1998 Mar;18(3):1489-97.
PMID 9488465
 
EWS-FLI1 fusion transcript structure is an independent determinant of prognosis in Ewing's sarcoma.
de Alava E, Kawai A, Healey JH, Fligman I, Meyers PA, Huvos AG, Gerald WL, Jhanwar SC, Argani P, Antonescu CR, Pardo-Mindan FJ, Ginsberg J, Womer R, Lawlor ER, Wunder J, Andrulis I, Sorensen PH, Barr FG, Ladanyi M.
J Clin Oncol. 1998 Apr;16(4):1248-55. Erratum in: J Clin Oncol 1998 Aug;16(8):2895.
PMID 9552022
 
A novel EWS-ERG rearrangement generating two hybrid mRNAs in a peripheral primitive neuroectodermal tumour (pPNET) with a t(15;22) translocation.
Minoletti F, Sozzi G, Tornielli S, Pilotti S, Azzarelli A, Pierotti MA, Radice P.
J Pathol. 1998 Dec;186(4):434-7.
PMID 10209495
 
Intraabdominal desmoplastic small round cell tumor with EWS/ERG fusion transcript.
Ordi J, de Alava E, Torne A, Mellado B, Pardo-Mindan J, Iglesias X, Cardesa A.
Am J Surg Pathol. 1998 Aug;22(8):1026-32.
PMID 9706984
 
A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing.
Pellizzoni L, Kataoka N, Charroux B, Dreyfuss G.
Cell. 1998 Nov 25;95(5):615-24.
PMID 9845364
 
Molecular analysis of Ewing's sarcoma: another fusion gene, EWS-E1AF, available for diagnosis.
Urano F, Umezawa A, Yabe H, Hong W, Yoshida K, Fujinaga K, Hata J.
Jpn J Cancer Res. 1998 Jul;89(7):703-11.
PMID 9738976
 
The transcriptional repressor ZFM1 interacts with and modulates the ability of EWS to activate transcription.
Zhang D, Paley AJ, Childs G.
J Biol Chem. 1998 Jul 17;273(29):18086-91.
PMID 9660765
 
Identification of a novel fusion gene involving hTAFII68 and CHN from a t(9;17)(q22;q11.2) translocation in an extraskeletal myxoid chondrosarcoma.
Attwooll C, Tariq M, Harris M, Coyne JD, Telford N, Varley JM.
Oncogene. 1999 Dec 9;18(52):7599-601.
PMID 10602520
 
Repression of the gene encoding the TGF-beta type II receptor is a major target of the EWS-FLI1 oncoprotein.
Hahm KB.
Nat Genet. 1999 Dec;23(4):481.
PMID 10581042
 
Prognostic impact of deletions at 1p36 and numerical aberrations in Ewing tumors.
Hattinger CM, Rumpler S, Strehl S, Ambros IM, Zoubek A, Potschger U, Gadner H, Ambros PF.
Genes Chromosomes Cancer. 1999 Mar;24(3):243-54.
PMID 10451705
 
Extraskeletal myxoid chondrosarcoma: a reappraisal of its morphologic spectrum and prognostic factors based on 117 cases.
Meis-Kindblom JM, Bergh P, Gunterberg B, Kindblom LG.
Am J Surg Pathol. 1999 Jun;23(6):636-50.
PMID 10366145
 
Molecular characterization of the genomic breakpoint junction in a t(11;22) translocation in Ewing sarcoma.
Obata K, Hiraga H, Nojima T, Yoshida MC, Abe S.
Genes Chromosomes Cancer. 1999 May;25(1):6-15.
PMID 10221334
 
Fusion of the EWS-related gene TAF2N to TEC in extraskeletal myxoid chondrosarcoma.
Sjogren H, Meis-Kindblom J, Kindblom LG, Aman P, Stenman G.
Cancer Res. 1999 Oct 15;59(20):5064-7.
PMID 10537274
 
The splicing factor U1C represses EWS/FLI-mediated transactivation.
Knoop LL, Baker SJ.
J Biol Chem. 2000 Aug 11;275(32):24865-71.
PMID 10827180
 
Soft tissue Ewing sarcoma--peripheral primitive neuroectodermal tumor with atypical clear cell pattern shows a new type of EWS-FEV fusion transcript.
Llombart-Bosch A, Pellin A, Carda C, Noguera R, Navarro S, Peydro-Olaya A.
Diagn Mol Pathol. 2000 Sep;9(3):137-44. (REVIEW)
PMID 10976720
 
Detection of t(11;22)(q24;q12) translocation and EWS-FLI-1 fusion transcript in a case of solid pseudopapillary tumor of the pancreas.
Maitra A, Weinberg AG, Schneider N, Patterson K.
Pediatr Dev Pathol. 2000 Nov-Dec;3(6):603-5.
PMID 11000339
 
A novel zinc finger gene is fused to EWS in small round cell tumor.
Mastrangelo T, Modena P, Tornielli S, Bullrich F, Testi MA, Mezzelani A, Radice P, Azzarelli A, Pilotti S, Croce CM, Pierotti MA, Sozzi G.
Oncogene. 2000 Aug 3;19(33):3799-804.
PMID 10949935
 
Identification of EWS/FLI-1 transcripts in giant-cell tumor of bone.
Scotlandi K, Chano T, Benini S, Serra M, Manara MC, Cerisano V, Picci P, Baldini N.
Int J Cancer. 2000 Aug 1;87(3):328-35.
PMID 10897036
 
Fusion of the NH2-terminal domain of the basic helix-loop-helix protein TCF12 to TEC in extraskeletal myxoid chondrosarcoma with translocation t(9;15)(q22;q21).
Sjogren H, Wedell B, Meis-Kindblom JM, Kindblom LG, Stenman G.
Cancer Res. 2000 Dec 15;60(24):6832-5.
PMID 11156374
 
Genetic characterization of angiomatoid fibrous histiocytoma identifies fusion of the FUS and ATF-1 genes induced by a chromosomal translocation involving bands 12q13 and 16p11.
Waters BL, Panagopoulos I, Allen EF.
Cancer Genet Cytogenet. 2000 Sep;121(2):109-16.
PMID 11063792
 
EWS.Fli-1 fusion protein interacts with hyperphosphorylated RNA polymerase II and interferes with serine-arginine protein-mediated RNA splicing.
Yang L, Chansky HA, Hickstein DD.
J Biol Chem. 2000 Dec 1;275(48):37612-8.
PMID 10982800
 
The COOH-terminal domain of FLI-1 is necessary for full tumorigenesis and transcriptional modulation by EWS/FLI-1.
Arvand A, Welford SM, Teitell MA, Denny CT.
Cancer Res. 2001 Jul 1;61(13):5311-7.
PMID 11431376
 
Oncogenic TLS/ERG and EWS/Fli-1 fusion proteins inhibit RNA splicing mediated by YB-1 protein.
Chansky HA, Hu M, Hickstein DD, Yang L.
Cancer Res. 2001 May 1;61(9):3586-90.
PMID 11325824
 
EWS/FLI alters 5'-splice site selection.
Knoop LL, Baker SJ.
J Biol Chem. 2001 Jun 22;276(25):22317-22. Epub 2001 Apr 11.
PMID 11301318
 
A multiplex real-time pcr assay for the detection of gene fusions observed in solid tumors.
Peter M, Gilbert E, Delattre O.
Lab Invest. 2001 Jun;81(6):905-12.
PMID 11406651
 
The Ewing's sarcoma gene product functions as a transcriptional activator.
Rossow KL, Janknecht R.
Cancer Res. 2001 Mar 15;61(6):2690-5.
PMID 11289149
 
Small round cell tumor with biphenotypic differentiation and variant of t(21;22)(q22;q12).
Tan SY, Burchill S, Brownhill SC, Gerrard MP, Watmore A, Wagner BE, Variend S.
Pediatr Dev Pathol. 2001 Jul-Aug;4(4):391-6.
PMID 11441341
 
Acquisition of secondary structural chromosomal changes in pediatric ewing sarcoma is a probable prognostic factor for tumor response and clinical outcome.
Zielenska M, Zhang ZM, Ng K, Marrano P, Bayani J, Ramirez OC, Sorensen P, Thorner P, Greenberg M, Squire JA.
Cancer. 2001 Jun 1;91(11):2156-64.
PMID 11391597
 
PDGF-C is an EWS/FLI induced transforming growth factor in Ewing family tumors.
Zwerner JP, May WA.
Oncogene. 2001 Feb 1;20(5):626-33.
PMID 11313995
 
The Ewing's sarcoma oncoprotein EWS/FLI induces a p53-dependent growth arrest in primary human fibroblasts.
Lessnick SL, Dacwag CS, Golub TR.
Cancer Cell. 2002 May;1(4):393-401.
PMID 12086853
 
Recurrent rearrangement of the Ewing's sarcoma gene, EWSR1, or its homologue, TAF15, with the transcription factor CIZ/NMP4 in acute leukemia.
Martini A, La Starza R, Janssen H, Bilhou-Nabera C, Corveleyn A, Somers R, Aventin A, Foa R, Hagemeijer A, Mecucci C, Marynen P.
Cancer Res. 2002 Oct 1;62(19):5408-12.
PMID 12359745
 
Atypical pleomorphic extraosseous ewing tumor/peripheral primitive neuroectodermal tumor with unusual phenotypic/genotypic profile.
Navarro S, Noguera R, Pellin A, Lopez-Guerrero JA, Rosello-Sastre E, Cremades A, Llombart-Bosch A.
Diagn Mol Pathol. 2002 Mar;11(1):9-15.
PMID 11854596
 
Fusion of the FUS and ATF1 genes in a large, deep-seated angiomatoid fibrous histiocytoma.
Raddaoui E, Donner LR, Panagopoulos I.
Diagn Mol Pathol. 2002 Sep;11(3):157-62.
PMID 12218455
 
Interaction of the EWS NH2 terminus with BARD1 links the Ewing's sarcoma gene to a common tumor suppressor pathway.
Spahn L, Petermann R, Siligan C, Schmid JA, Aryee DN, Kovar H.
Cancer Res. 2002 Aug 15;62(16):4583-7.
PMID 12183411
 
Cooperative interaction of EWS with CREB-binding protein selectively activates hepatocyte nuclear factor 4-mediated transcription.
Araya N, Hirota K, Shimamoto Y, Miyagishi M, Yoshida E, Ishida J, Kaneko S, Kaneko M, Nakajima T, Fukamizu A.
J Biol Chem. 2003 Feb 14;278(7):5427-32. Epub 2002 Nov 28.
PMID 12459554
 
Expression and subcellular localization of Ewing sarcoma (EWS) protein is affected by the methylation process.
Belyanskaya LL, Delattre O, Gehring H.
Exp Cell Res. 2003 Aug 15;288(2):374-81.
PMID 12915128
 
Bone: Giant cell tumour.
Forsyth RG, Hogendoorn PCW.
Atlas Genet Cytogenet Oncol Haematol. June 2003. URL: http://AtlasGeneticsOncology.org/Tumors/BoneGiantCellTumID5150.html.
 
FUS/ERG gene fusions in Ewing's tumors.
Shing DC, McMullan DJ, Roberts P, Smith K, Chin SF, Nicholson J, Tillman RM, Ramani P, Cullinane C, Coleman N.
Cancer Res. 2003 Aug 1;63(15):4568-76.
PMID 12907633
 
The Ewing's sarcoma protein interacts with the Tudor domain of the survival motor neuron protein.
Young PJ, Francis JW, Lince D, Coon K, Androphy EJ, Lorson CL.
Brain Res Mol Brain Res. 2003 Nov 6;119(1):37-49.
PMID 14597228
 
The effects of Brn-3a on neuronal differentiation and apoptosis are differentially modulated by EWS and its oncogenic derivative EWS/Fli-1.
Gascoyne DM, Thomas GR, Latchman DS.
Oncogene. 2004 May 6;23(21):3830-40.
PMID 15021903
 
TFG is a novel fusion partner of NOR1 in extraskeletal myxoid chondrosarcoma.
Hisaoka M, Ishida T, Imamura T, Hashimoto H.
Genes Chromosomes Cancer. 2004 Aug;40(4):325-8.
PMID 15188455
 
The Ews-ERG fusion protein can initiate neoplasia from lineage-committed haematopoietic cells.
Codrington R, Pannell R, Forster A, Drynan LF, Daser A, Lobato N, Metzler M, Rabbitts TH.
PLoS Biol. 2005 Aug;3(8):e242. Epub 2005 Jun 28.
PMID 15974803
 
Fusion of the EWSR1 and ATF1 genes without expression of the MITF-M transcript in angiomatoid fibrous histiocytoma.
Hallor KH, Mertens F, Jin Y, Meis-Kindblom JM, Kindblom LG, Behrendtz M, Kalen A, Mandahl N, Panagopoulos I.
Genes Chromosomes Cancer. 2005 Sep;44(1):97-102.
PMID 15884099
 
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.
Hu-Lieskovan S, Zhang J, Wu L, Shimada H, Schofield DE, Triche TJ.
Cancer Res. 2005 Jun 1;65(11):4633-44.
PMID 15930281
 
EWS-ETS oncoproteins: the linchpins of Ewing tumors.
Janknecht R.
Gene. 2005 Dec 19;363:1-14. Epub 2005 Oct 3. (REVIEW)
PMID 16202544
 
Stimulation of Oct-4 activity by Ewing's sarcoma protein.
Lee J, Rhee BK, Bae GY, Han YM, Kim J.
Stem Cells. 2005 Jun-Jul;23(6):738-51.
PMID 15917470
 
Association of the t(12;22)(q13;q12) EWS/ATF1 rearrangement with polyphenotypic round cell sarcoma of bone: a case report.
Somers GR, Viero S, Nathan PC, Teshima I, Pereira C, Zielenska M.
Am J Surg Pathol. 2005 Dec;29(12):1673-9.
PMID 16327442
 
EWSR1 is fused to POU5F1 in a bone tumor with translocation t(6;22)(p21;q12).
Yamaguchi S, Yamazaki Y, Ishikawa Y, Kawaguchi N, Mukai H, Nakamura T.
Genes Chromosomes Cancer. 2005 Jun;43(2):217-22.
PMID 15729702
 
EWS-CREB1: a recurrent variant fusion in clear cell sarcoma--association with gastrointestinal location and absence of melanocytic differentiation.
Antonescu CR, Nafa K, Segal NH, Dal Cin P, Ladanyi M.
Clin Cancer Res. 2006 Sep 15;12(18):5356-62.
PMID 17000668
 
An in vitro enzymatic assay coupled to proteomics analysis reveals a new DNA processing activity for Ewing sarcoma and TAF(II)68 proteins.
Guipaud O, Guillonneau F, Labas V, Praseuth D, Rossier J, Lopez B, Bertrand P.
Proteomics. 2006 Nov;6(22):5962-72.
PMID 17106916
 
Cooperative DNA binding with AP-1 proteins is required for transformation by EWS-Ets fusion proteins.
Kim S, Denny CT, Wisdom R.
Mol Cell Biol. 2006 Apr;26(7):2467-78.
PMID 16537893
 
TLS, EWS and TAF15: a model for transcriptional integration of gene expression.
Law WJ, Cann KL, Hicks GG.
Brief Funct Genomic Proteomic. 2006 Mar;5(1):8-14. Epub 2006 Feb 23. (REVIEW)
PMID 16769671
 
Expression profiling of EWS/FLI identifies NKX2.2 as a critical target gene in Ewing's sarcoma.
Smith R, Owen LA, Trem DJ, Wong JS, Whangbo JS, Golub TR, Lessnick SL.
Cancer Cell. 2006 May;9(5):405-16. Erratum in: Cancer Cell. 2007 Jan;11(1):97.
PMID 16697960
 
Oncoprotein EWS-FLI1 activity is enhanced by RNA helicase A.
Toretsky JA, Erkizan V, Levenson A, Abaan OD, Parvin JD, Cripe TP, Rice AM, Lee SB, Uren A.
Cancer Res. 2006 Jun 1;66(11):5574-81.
PMID 16740692
 
Spindle cell tumor with EWS-WT1 transcript and a favorable clinical course: a variant of DSCT, a variant of leiomyosarcoma, or a new entity? Report of 2 pediatric cases.
Alaggio R, Rosolen A, Sartori F, Leszl A, d'Amore ES, Bisogno G, Carli M, Cecchetto G, Coffin CM, Ninfo V.
Am J Surg Pathol. 2007 Mar;31(3):454-9.
PMID 17325488
 
EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma.
Antonescu CR, Dal Cin P, Nafa K, Teot LA, Surti U, Fletcher CD, Ladanyi M.
Genes Chromosomes Cancer. 2007 Dec;46(12):1051-60.
PMID 17724745
 
Ewing sarcoma protein ewsr1 maintains mitotic integrity and proneural cell survival in the zebrafish embryo.
Azuma M, Embree LJ, Sabaawy H, Hickstein DD.
PLoS One. 2007 Oct 3;2(10):e979.
PMID 17912356
 
Fusion genes in angiomatoid fibrous histiocytoma.
Hallor KH, Micci F, Meis-Kindblom JM, Kindblom LG, Bacchini P, Mandahl N, Mertens F, Panagopoulos I.
Cancer Lett. 2007 Jun 18;251(1):158-63. Epub 2006 Dec 22.
PMID 17188428
 
Ewing sarcoma gene EWS is essential for meiosis and B lymphocyte development.
Li H, Watford W, Li C, Parmelee A, Bryant MA, Deng C, O'Shea J, Lee SB.
J Clin Invest. 2007 May;117(5):1314-23. Epub 2007 Apr 5.
PMID 17415412
 
EWSR1-CREB1 and EWSR1-ATF1 fusion genes in angiomatoid fibrous histiocytoma.
Rossi S, Szuhai K, Ijszenga M, Tanke HJ, Zanatta L, Sciot R, Fletcher CD, Dei Tos AP, Hogendoorn PC.
Clin Cancer Res. 2007 Dec 15;13(24):7322-8.
PMID 18094413
 
Mesenchymal stem cell features of Ewing tumors.
Tirode F, Laud-Duval K, Prieur A, Delorme B, Charbord P, Delattre O.
Cancer Cell. 2007 May;11(5):421-9.
PMID 17482132
 
Undifferentiated small round cell sarcomas with rare EWS gene fusions: identification of a novel EWS-SP3 fusion and of additional cases with the EWS-ETV1 and EWS-FEV fusions.
Wang L, Bhargava R, Zheng T, Wexler L, Collins MH, Roulston D, Ladanyi M.
J Mol Diagn. 2007 Sep;9(4):498-509. Epub 2007 Aug 9.
PMID 17690209
 
The multifunctional FUS, EWS and TAF15 proto-oncoproteins show cell type-specific expression patterns and involvement in cell spreading and stress response.
Andersson MK, Stahlberg A, Arvidsson Y, Olofsson A, Semb H, Stenman G, Nilsson O, Aman P.
BMC Cell Biol. 2008 Jul 11;9:37.
PMID 18620564
 
Detection of a t(1;22)(q23;q12) translocation leading to an EWSR1-PBX1 fusion gene in a myoepithelioma.
Brandal P, Panagopoulos I, Bjerkehagen B, Gorunova L, Skjeldal S, Micci F, Heim S.
Genes Chromosomes Cancer. 2008 Jul;47(7):558-64.
PMID 18383210
 
IGF1 is a common target gene of Ewing's sarcoma fusion proteins in mesenchymal progenitor cells.
Cironi L, Riggi N, Provero P, Wolf N, Suva ML, Suva D, Kindler V, Stamenkovic I.
PLoS One. 2008 Jul 9;3(7):e2634.
PMID 18648544
 
Primary intracerebral angiomatoid fibrous histiocytoma: report of a case with a t(12;22)(q13;q12) causing type 1 fusion of the EWS and ATF-1 genes.
Dunham C, Hussong J, Seiff M, Pfeifer J, Perry A.
Am J Surg Pathol. 2008 Mar;32(3):478-84.
PMID 18300800
 
EWS-FLI1 induces developmental abnormalities and accelerates sarcoma formation in a transgenic mouse model.
Lin PP, Pandey MK, Jin F, Xiong S, Deavers M, Parant JM, Lozano G.
Cancer Res. 2008 Nov 1;68(21):8968-75.
PMID 18974141
 
Ewing sarcoma: historical perspectives, current state-of-the-art, and opportunities for targeted therapy in the future.
Ludwig JA.
Curr Opin Oncol. 2008 Jul;20(4):412-8. (REVIEW)
PMID 18525337
 
Complex rearrangement of chromosomes 19, 21, and 22 in Ewing sarcoma involving a novel reciprocal inversion-insertion mechanism of EWS-ERG fusion gene formation: a case analysis and literature review.
Maire G, Brown CW, Bayani J, Pereira C, Gravel DH, Bell JC, Zielenska M, Squire JA.
Cancer Genet Cytogenet. 2008 Mar;181(2):81-92. (REVIEW)
PMID 18295659
 
POU5F1, encoding a key regulator of stem cell pluripotency, is fused to EWSR1 in hidradenoma of the skin and mucoepidermoid carcinoma of the salivary glands.
Moller E, Stenman G, Mandahl N, Hamberg H, Molne L, van den Oord JJ, Brosjo O, Mertens F, Panagopoulos I.
J Pathol. 2008 May;215(1):78-86.
PMID 18338330
 
EWS-FLI-1 expression triggers a Ewing's sarcoma initiation program in primary human mesenchymal stem cells.
Riggi N, Suva ML, Suva D, Cironi L, Provero P, Tercier S, Joseph JM, Stehle JC, Baumer K, Kindler V, Stamenkovic I.
Cancer Res. 2008 Apr 1;68(7):2176-85.
PMID 18381423
 
TFIP11, CCNL1 and EWSR1 Protein-protein Interactions, and Their Nuclear Localization.
Tannukit S, Wen X, Wang H, Paine ML.
Int J Mol Sci. 2008;9(8):1504-1514.
PMID 19122807
 
GLI1 is a direct transcriptional target of EWS-FLI1 oncoprotein.
Beauchamp E, Bulut G, Abaan O, Chen K, Merchant A, Matsui W, Endo Y, Rubin JS, Toretsky J, Uren A.
J Biol Chem. 2009 Apr 3;284(14):9074-82. Epub 2009 Feb 3.
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Ewing sarcoma-peripheral neuroectodermal tumor of the kidney with a FUS-ERG fusion transcript.
Berg T, Kalsaas AH, Buechner J, Busund LT.
Cancer Genet Cytogenet. 2009 Oct;194(1):53-7.
PMID 19737655
 
t(19;22)(q13;q12) Translocation leading to the novel fusion gene EWSR1-ZNF444 in soft tissue myoepithelial carcinoma.
Brandal P, Panagopoulos I, Bjerkehagen B, Heim S.
Genes Chromosomes Cancer. 2009 Dec;48(12):1051-6.
PMID 19760602
 
A small molecule blocking oncogenic protein EWS-FLI1 interaction with RNA helicase A inhibits growth of Ewing's sarcoma.
Erkizan HV, Kong Y, Merchant M, Schlottmann S, Barber-Rotenberg JS, Yuan L, Abaan OD, Chou TH, Dakshanamurthy S, Brown ML, Uren A, Toretsky JA.
Nat Med. 2009 Jul;15(7):750-6. Epub 2009 Jul 5.
PMID 19584866
 
CREBBP (CREB binding protein).
Gervasini C.
Atlas Genet Cytogenet Oncol Haematol. March 2009. URL: http://AtlasGeneticsOncology.org/Genes/CBPID42.html
 
GLI1 is a central mediator of EWS/FLI1 signaling in Ewing tumors.
Joo J, Christensen L, Warner K, States L, Kang HG, Vo K, Lawlor ER, May WA.
PLoS One. 2009 Oct 27;4(10):e7608.
PMID 19859563
 
EWS/FLI and its downstream target NR0B1 interact directly to modulate transcription and oncogenesis in Ewing's sarcoma.
Kinsey M, Smith R, Iyer AK, McCabe ER, Lessnick SL.
Cancer Res. 2009 Dec 1;69(23):9047-55. Epub 2009 Nov 17.
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Dynamic subcellular localization of the Ewing sarcoma proto-oncoprotein and its association with and stabilization of microtubules.
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J Mol Biol. 2009 Feb 13;386(1):1-13. Epub 2008 Dec 24.
PMID 19133275
 
EWS/ETS regulates the expression of the Dickkopf family in Ewing family tumor cells.
Miyagawa Y, Okita H, Itagaki M, Toyoda M, Katagiri YU, Fujimoto J, Hata J, Umezawa A, Kiyokawa N.
PLoS One. 2009;4(2):e4634. Epub 2009 Feb 27.
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Reichek J, Barr FG.
Atlas Genet Cytogenet Oncol Haematol. January 2009. URL: http://AtlasGeneticsOncology.org/Tumors/rhab5004.html.
 
EZH2 is a mediator of EWS/FLI1 driven tumor growth and metastasis blocking endothelial and neuro-ectodermal differentiation.
Richter GH, Plehm S, Fasan A, Rossler S, Unland R, Bennani-Baiti IM, Hotfilder M, Lowel D, von Luettichau I, Mossbrugger I, Quintanilla-Martinez L, Kovar H, Staege MS, Muller-Tidow C, Burdach S.
Proc Natl Acad Sci U S A. 2009 Mar 31;106(13):5324-9. Epub 2009 Mar 16.
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Angiomatoid fibrous histiocytoma with t(2;22)(q33;q12.2) and EWSR1 gene rearrangement.
Shao L, Singh V, Cooley L.
Pediatr Dev Pathol. 2009 Mar-Apr;12(2):143-6. Epub 2008 Jul 30.
PMID 18666823
 
Fusion of EWSR1 with the DUX4 facioscapulohumeral muscular dystrophy region resulting from t(4;22)(q35;q12) in a case of embryonal rhabdomyosarcoma.
Sirvent N, Trassard M, Ebran N, Attias R, Pedeutour F.
Cancer Genet Cytogenet. 2009 Nov;195(1):12-8.
PMID 19837262
 
The NFATc2 gene is involved in a novel cloned translocation in a Ewing sarcoma variant that couples its function in immunology to oncology.
Szuhai K, Ijszenga M, de Jong D, Karseladze A, Tanke HJ, Hogendoorn PC.
Clin Cancer Res. 2009 Apr 1;15(7):2259-68. Epub 2009 Mar 24.
PMID 19318479
 
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J Mol Cell Biol. 2009 Dec;1(2):82-92. Epub 2009 Sep 24. (REVIEW)
PMID 19783543
 
Olfactory neuroblastoma.
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Head Neck Pathol. 2009 Sep;3(3):252-9. Epub 2009 Jul 16. (REVIEW)
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Mod Pathol. 2009 Sep;22(9):1201-9. Epub 2009 Jun 26.
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Carcinogenesis. 2010 Mar;31(3):394-401. Epub 2009 Dec 17.
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Int J Radiat Oncol Biol Phys. 2010 Nov 15;78(4):992-7. Epub 2010 Mar 16.
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EWS-FLI-1 modulates miRNA145 and SOX2 expression to initiate mesenchymal stem cell reprogramming toward Ewing sarcoma cancer stem cells.
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Genes Dev. 2010 May;24(9):916-32. Epub 2010 Apr 9.
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Contributor(s)

Written04-1998Francine Mugneret
Laboratoire de Cytogénétique, CHU Le Bocage, BP 77908, 21079 Dijon Cedex, France
Updated08-2010Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Citation

This paper should be referenced as such :
Huret, JL
EWSR1 (Ewing sarcoma breakpoint region 1)
Atlas Genet Cytogenet Oncol Haematol. 2011;15(5):-.
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History of this paper:
Huret, JL. EWSR1 (Ewing sarcoma breakpoint region 1). Atlas Genet Cytogenet Oncol Haematol. 2011;15(5):-.
http://documents.irevues.inist.fr/bitstream/2042/45012/1/08-2010-EWSR1ID85.pdf
URL : http://AtlasGeneticsOncology.org/Genes/EWSR1ID85.html

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