t(11;22)(q24;q12) EWSR1/FLI1

2018-01-01   Jean-Loup Huret , Philippe Dessen 

Clinics and Pathology

Disease

Ewing sarcoma

Genes Involved and Proteins

Gene name
EWSR1
Location
22q12.2
Gene name
FLI1
Location
11q24.3

Highly cited references

Pubmed IDYearTitleCitations
299770592018Ewing sarcoma.163
320490092020Transcriptional Programs Define Intratumoral Heterogeneity of Ewing Sarcoma at Single-Cell Resolution.28
315115242019Cooperation of cancer drivers with regulatory germline variants shapes clinical outcomes.26
294167162018Robust diagnosis of Ewing sarcoma by immunohistochemical detection of super-enhancer-driven EWSR1-ETS targets.24
287310432017Gastroblastoma harbors a recurrent somatic MALAT1-GLI1 fusion gene.21
309622072019FET family fusion oncoproteins target the SWI/SNF chromatin remodeling complex.20
291040832018Development and Evaluation of a Pan-Sarcoma Fusion Gene Detection Assay Using the NanoString nCounter Platform.19
293869152018Detection of circulating tumor cells in liquid biopsy from Ewing sarcoma patients.18
286437912017EWSR1 fusion proteins mediate PAX7 expression in Ewing sarcoma.18
319705912019Targeting the undruggable: exploiting neomorphic features of fusion oncoproteins in childhood sarcomas for innovative therapies.16
339199882021Ewing Sarcoma-Diagnosis, Treatment, Clinical Challenges and Future Perspectives.15
324150692020Oncogenic hijacking of a developmental transcription factor evokes vulnerability toward oxidative stress in Ewing sarcoma.15
339303112021STAG2 mutations alter CTCF-anchored loop extrusion, reduce cis-regulatory interactions and EWSR1-FLI1 activity in Ewing sarcoma.14
300936392018Genome-wide association study identifies multiple new loci associated with Ewing sarcoma susceptibility.14
303486352019The Ewing Family of Tumors Relies on BCL-2 and BCL-XL to Escape PARP Inhibitor Toxicity.12
284292772018Primary Ewing Sarcoma / Primitive Neuroectodermal Tumor of the Kidney: A Clinicopathologic Study of 23 Cases.12
307419332019Targeting the CALCB/RAMP1 axis inhibits growth of Ewing sarcoma.11
302859972019Adamantinoma-like Ewing Sarcoma of the Salivary Glands: A Newly Recognized Mimicker of Basaloid Salivary Carcinomas.11
323620122020The clinical heterogeneity of round cell sarcomas with EWSR1/FUS gene fusions: Impact of gene fusion type on clinical features and outcome.10
286167852018Usefulness of NKX2.2 Immunohistochemistry for Distinguishing Ewing Sarcoma from Other Sinonasal Small Round Blue Cell Tumors.9
338019532021Current Status of Management and Outcome for Patients with Ewing Sarcoma.7
330975302020RING1B recruits EWSR1-FLI1 and cooperates in the remodeling of chromatin necessary for Ewing sarcoma tumorigenesis.7
320263432020Precision medicine in Ewing sarcoma: a translational point of view.7
318117032020Focal adhesion kinase confers pro-migratory and antiapoptotic properties and is a potential therapeutic target in Ewing sarcoma.7
310365662019EWSR1-FLI1 Activation of the Cancer/Testis Antigen FATE1 Promotes Ewing Sarcoma Survival.7
306970612019Precision medicine approaches for the management of Ewing sarcoma: current perspectives.7
322904182020Reconstruction of Ewing Sarcoma Developmental Context from Mass-Scale Transcriptomics Reveals Characteristics of EWSR1-FLI1 Permissibility.6
312329352019Clinical application of RNA sequencing in sarcoma diagnosis: An institutional experience.6
343410722021Unraveling Ewing Sarcoma Tumorigenesis Originating from Patient-Derived Mesenchymal Stem Cells.4
320770552021Carcinomas of the Thyroid with Ewing Family Tumor Elements (CEFTEs): A Diagnostic Challenge Before Surgery.4
307348982019Adamantinoma-Like Ewing Sarcoma of the Thyroid: A Case Report and Review of the Literature.4
296549552018Histologic Features and Prognosis of Spinal Intradural Extramedullary Ewing Sarcoma: Case Report, Literature Review, and Analysis of Prognosis.4
349975462022Single-cell RNA profiling identifies diverse cellular responses to EWSR1/FLI1 downregulation in Ewing sarcoma cells.3
343596822021Therapeutic Potential of EWSR1-FLI1 Inactivation by CRISPR/Cas9 in Ewing Sarcoma.3
330511462020Expression of the EWSR1-FLI1 fusion oncogene in pancreas cells drives pancreatic atrophy and lipomatosis.3
325022032020An inducible ectopic expression system of EWSR1-FLI1 as a tool for understanding Ewing sarcoma oncogenesis.3
317567792020Ewing sarcoma with FEV gene rearrangements is a rare subset with predilection for extraskeletal locations and aggressive behavior.3
320606842020[Malignant round cell tumors : The Ewing sarcoma and beyond].3
301234242018Identifying the druggable interactome of EWS-FLI1 reveals MCL-1 dependent differential sensitivities of Ewing sarcoma cells to apoptosis inducers.3
285415292017Statistical algorithms improve accuracy of gene fusion detection.3
351820122022FET fusion oncoproteins interact with BRD4 and SWI/SNF chromatin remodelling complex subtypes in sarcoma.2
349740292022SPARC-mediated long-term retention of nab-paclitaxel in pediatric sarcomas.2
343157692021Pharmaceutical Interference of the EWS-FLI1-driven Transcriptome By Cotargeting H3K27ac and RNA Polymerase Activity in Ewing Sarcoma.2
344619402021GSK2126458 has the potential to inhibit the proliferation of pancreatic cancer uncovered by bioinformatics analysis and pharmacological experiments.2
345313682021Therapeutic targeting of the PLK1-PRC1-axis triggers cell death in genomically silent childhood cancer.2
340841622021The Chromatin Accessibility Landscape of Peripheral Blood Mononuclear Cells in Patients With Systemic Lupus Erythematosus at Single-Cell Resolution.2
336697302021PDX-Derived Ewing's Sarcoma Cells Retain High Viability and Disease Phenotype in Alginate Encapsulated Spheroid Cultures.2
333261112021Systems Biology Analysis for Ewing Sarcoma.2
329446402020SOX6: a double-edged sword for Ewing sarcoma.2
323336332020Evaluation of VTP-50469, a menin-MLL1 inhibitor, against Ewing sarcoma xenograft models by the pediatric preclinical testing consortium.2
321643542020High Specificity of BCL11B and GLG1 for EWSR1-FLI1 and EWSR1-ERG Positive Ewing Sarcoma.2
319934962020Interaction between somatic mutations and germline variants contributes to clinical heterogeneity in cancer.2
304166852018Antitumor profile of the PI3K inhibitor ZSTK474 in human sarcoma cell lines.2
296110532018Extra-osseous Ewing sarcoma of the pancreas: case report with radiologic, pathologic, and molecular correlation, and brief review of the literature.2
286458082017Primary undifferentiated small round cell sarcoma of the deep abdominal wall with a novel variant of t(10;19) CIC-DUX4 gene fusion.2
354413572022Establishment and characterization of a novel patient-derived Ewing sarcoma cell line, NCC-ES2-C1.1
332132482022Extraskeletal Ewing's Sarcoma with CD7 Positivity and T-cell Receptor/Immunoglobulin Rearrangement Masquerading as T-lymphoblastic Lymphoma.1
352858022022Dysregulated heparan sulfate proteoglycan metabolism promotes Ewing sarcoma tumor growth.1
343746402022EWSR1 rearrangement in papillary thyroid microcarcinoma is related to classic morphology and the presence of small-cell phenotype.1
342182272022A Review of Effusion Cytomorphology of Small Round Cell Tumors.1
343450162021Selective inhibition of HDAC6 regulates expression of the oncogenic driver EWSR1-FLI1 through the EWSR1 promoter in Ewing sarcoma.1
345848012021Ewing Sarcoma and Ewing-Like Sarcoma and the Role of NKX2.2 Immunoreactivity.1
336491042021Targeting EYA3 in Ewing Sarcoma Retards Tumor Growth and Angiogenesis.1
333261102021Epigenetic Analysis in Ewing Sarcoma.1
334604492021Cross contamination meets misclassification: Awakening of CHP-100 from sleeping beauty sleep-A reviewed model for Ewing's sarcoma.1
324838242020Primary superficial Ewing sarcoma: A unique entity? A case report including novel findings of ELF3 and TNFRSF14 copy number loss.1
324932072020RNA-seq reveals downregulated osteochondral genes potentially related to tibia bacterial chondronecrosis with osteomyelitis in broilers.1
308654452019In Situ Ring Contraction and Transformation of the Rhizoxin Macrocycle through an Abiotic Pathway.1
303242442018Establishment of a novel patient-derived Ewing's sarcoma cell line, NCC-ES1-C1.1
359211772022A druggable rheostat for Ewing sarcoma?0
351650592022Detection of EWSR1 fusions in CCOC by targeted RNA-seq.0
350250562022Adamantinoma-Like Ewing Sarcoma of the Head and Neck: A Case-Series of a Rare and Challenging Diagnosis.0
359838612022A rare radiotherapy-sensitive primitive neuroectodermal tumor with APC gene amplification in an adult: a case report and literature review.0
359523222022Prospective Clinical Genomic Profiling of Ewing Sarcoma: ERF and FGFR1 Mutations as Recurrent Secondary Alterations of Potential Biologic and Therapeutic Relevance.0
358032622022TK216 targets microtubules in Ewing sarcoma cells.0
348551252022Adamantinoma-like Ewing Sarcoma of the Nasal Cavity: A Rare Clinical Presentation with Deceptive Histopathologic Features.0
343127952022Primary Extra-Osseous Ewing Sarcoma of the Thyroid: A Case Report and Review of the Literature.0
355654572022Upregulation of the Mevalonate Pathway through EWSR1-FLI1/EGR2 Regulatory Axis Confers Ewing Cells Exquisite Sensitivity to Statins.0
358324432022Comparative characteristics of small cell lung cancer and Ewing's sarcoma: a narrative review.0
357403492022Epigenetic and Transcriptional Signaling in Ewing Sarcoma-Disease Etiology and Therapeutic Opportunities.0
357050302022Oncofusion-driven de novo enhancer assembly promotes malignancy in Ewing sarcoma via aberrant expression of the stereociliary protein LOXHD1.0
354674462022Outcome for Neoadjuvant Treatment of Parotid Gland Adamantinoma-Like Ewing Sarcoma: Case Report and Review of Literatures.0
354548952022Novel Targeted Therapeutic Strategies for Ewing Sarcoma.0
356335362022Inhibitors of EYA3 Protein in Ewing Sarcoma.0
355273222022Identification of a novel translocation producing an in-frame fusion of TAF15 and ETV4 in a case of extraosseous Ewing sarcoma revealed in the prenatal period.0
355292992022Ewing Sarcoma and Primitive Neuroectodermal Tumor of the Thoracic Esophagus: Case Report and Comprehensive Literature Review.0
341326662021Adding Perplexity to Rarity: Diffuse S100-Protein and SOX10 Expression in a Molecularly Confirmed PAX7-Positive Primary Cutaneous Ewing Sarcoma.0
348308202021The Transcription Factor FEZF1, a Direct Target of EWSR1-FLI1 in Ewing Sarcoma Cells, Regulates the Expression of Neural-Specific Genes.0
347220902021Incidence and Demographic Profile of Ewings Sarcoma: Experience From a Tertiary Care Hospital.0
341113152021Solid endobronchial tumor with EWSR1-FLI1 fusion gene - A diagnostically challenging case of the Ewing sarcoma.0
339903432021STAG2 Promotes Anchored Loop Extrusion to Modulate EWSR1-FLI1 Activity.0
350247482021Peripheral-type primitive neuroectodermal tumor of the ovary with EWSR1-FLI1 fusion transcript: a case report and brief review of literature.0
332638072020[Integrative molecular pathology of cancer].0
333261092021Chromatin Immunoprecipitation Followed by Next-Generation Sequencing (ChIP-Seq) Analysis in Ewing Sarcoma.0
333260972021Ewing Sarcoma-Specific (Re)expression Models.0
333260952021Molecular Approaches to Diagnosis in Ewing Sarcoma: RT-PCR.0
333260892021Germline Variation and Somatic Alterations in Ewing Sarcoma.0
332933702021Chromosomal localization of Ewing sarcoma EWSR1/FLI1 protein promotes the induction of aneuploidy.0
328015622020Differential DNA methylation analysis across the promoter regions using methylated DNA immunoprecipitation sequencing profiling of porcine loin muscle.0
315858122019Ewing sarcoma with myxoid stroma: Case report of an unusual histological variant.0

Bibliography

Pubmed IDLast YearTitleAuthors
107024012000Association of EWS-FLI1 type 1 fusion with lower proliferative rate in Ewing's sarcoma.de Alava E et al

Summary

Fusion gene

EWSR1/FLI1 EWSR1 (22q12.2) FLI1 (11q24.3)

Note

Non-annotated chromosomal abnormality. Preliminary data :
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Citation

Jean-Loup Huret ; Philippe Dessen

t(11;22)(q24;q12) EWSR1/FLI1

Atlas Genet Cytogenet Oncol Haematol. 2018-01-01

Online version: http://atlasgeneticsoncology.org/haematological/2716/t(11;22)(q24;q12)-ewsr1-fli1