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    BIOMARKER:

    EWSR1 mutation

    i
    Other names: EWSR1, EWS RNA Binding Protein 1, Ewing Sarcoma Breakpoint Region 1, RNA-Binding Protein EWS, EWS, Ewings Sarcoma EWS-Fli1 (Type 1) Oncogene, Ewing Sarcoma Breakpoint Region 1 Protein, EWS RNA-Binding Protein Variant 6, EWS Oncogene, BK984G1.4, EWS-FLI1
    Entrez ID:
    2130
    Related biomarkers:
    Fusion
    1year
    Everolimus in combination with vandetanib in children, adolescents, and young adults: a phase I study. (PubMed, ESMO Open)
    The combination of vandetanib and everolimus showed early activity and tolerable toxicity profile in pediatric patients with advanced cancers.
    P1 data • Journal • Combination therapy
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • KDR (Kinase insert domain receptor) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • EWSR1 (EWS RNA Binding Protein 1) • TFE3 (Transcription Factor Binding To IGHM Enhancer 3) • ASPSCR1 (ASPSCR1 Tether For SLC2A4) • CREB3L1 (CAMP Responsive Element Binding Protein 3 Like 1)
    |
    EWSR1 mutation • KDR Q472H • TFE3 fusion
    |
    everolimus • Caprelsa (vandetanib)
    over1year
    Clinicopathological features of thyroid-like low-grade nasopharyngeal papillary adenocarcinoma (PubMed, Zhonghua Bing Li Xue Za Zhi)
    TL-LGNPPA is a rare indolent tumor of the nasopharynx and exhibits a unique morphology and immunophenotype. Endoscopic resection is an effective treatment for TL-LGNPPA with excellent overall prognosis.
    Journal • Tumor mutational burden • MSi-H Biomarker
    |
    TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • TET2 (Tet Methylcytosine Dioxygenase 2) • EWSR1 (EWS RNA Binding Protein 1) • STAT3 (Signal Transducer And Activator Of Transcription 3) • JAK3 (Janus Kinase 3) • NKX2-1 (NK2 Homeobox 1) • VIM (Vimentin) • CDX2 (Caudal Type Homeobox 2) • GRIN2A (Glutamate Ionotropic Receptor NMDA Type Subunit 2A) • NAPSA (Napsin A Aspartic Peptidase) • PAX8 (Paired box 8) • SMAD2 (SMAD Family Member 2)
    |
    MSI-H/dMMR • TMB-L • CDKN2A negative • JAK3 mutation • EWSR1 mutation
    over1year
    Primary intracranial Ewing sarcoma invading the superior sagittal sinus with EWSR1-FLI1 gene fusion and EWSR1 gene mutation: Case report and literature review. (PubMed, World Neurosurg)
    We report the first case of primary intracranial Ewing sarcoma invading the superior sagittal sinus and causing middle segment occlusion, accompanied by EWSR1-FLI1 gene fusion and EWSR1 gene mutation. Subsequently, we conducted a literature review to characterize the clinical information of primary intracranial Ewing sarcomas.
    Review • Journal • Tumor mutational burden
    |
    TMB (Tumor Mutational Burden) • EWSR1 (EWS RNA Binding Protein 1) • FLI1 (Fli-1 Proto-Oncogene ETS Transcription Factor)
    |
    TMB-L • EWSR1 mutation
    3years
    GSK2126458 has the potential to inhibit the proliferation of pancreatic cancer uncovered by bioinformatics analysis and pharmacological experiments. (PubMed, J Transl Med)
    This study suggested that the PI3K-Akt signaling pathway may be a key pathway for pancreatic cancer, our study uncovered the potential therapeutic potential of GSK2126458, a specific mTOR inhibitor, for pancreatic cancer.
    Journal
    |
    RNF43 (Ring Finger Protein 43) • EWSR1 (EWS RNA Binding Protein 1) • EGF (Epidermal growth factor) • FLI1 (Fli-1 Proto-Oncogene ETS Transcription Factor)
    |
    RNF43 mutation • EWSR1 mutation
    |
    omipalisib (GSK2126458)
    3years
    [VIRTUAL] EWS/FLI1 HIJACKS UHRF1 TO DRIVE THE MALIGNANCY OF EWING SARCOMA (SIOP 2021)
    High expression of UHRF1 correlates with a dismal prognosis in EwS; EWS/FLI1 binds to SRA domain of UHRF1 to maintain each other's stability and drive the aberrant DNA methylation pattern of EwS.
    Tumor Mutational Burden
    |
    TMB (Tumor Mutational Burden) • EWSR1 (EWS RNA Binding Protein 1) • FLI1 (Fli-1 Proto-Oncogene ETS Transcription Factor) • UHRF1 (Ubiquitin Like With PHD And Ring Finger Domains 1)
    |
    TMB-L • EWSR1 mutation
    almost4years
    Malignant gastrointestinal neuroectodermal tumor with BRAF mutation and a history of malignant melanoma: A case report. (PubMed, Mol Clin Oncol)
    Combination therapy with dabrafenib mesylate and trametinib dimethyl sulfoxide proved to be temporarily effective against this tumor. Furthermore, there is no report of GNET exhibiting both a BRAF mutation and an EWSR1-ATF1 fusion gene. Further accumulation of similar cases is necessary to elucidate the pathological significance of this GNET having a BRAF mutation.
    Clinical • Journal
    |
    BRAF (B-raf proto-oncogene) • EWSR1 (EWS RNA Binding Protein 1) • NCAM1 (Neural cell adhesion molecule 1) • SOX10 (SRY-Box 10) • ATF1 (Activating Transcription Factor 1)
    |
    BRAF mutation • EWSR1 mutation
    |
    Mekinist (trametinib) • Tafinlar (dabrafenib)
    almost4years
    Chromosomal localization of Ewing sarcoma EWSR1/FLI1 protein promotes the induction of aneuploidy. (PubMed, J Biol Chem)
    Together, these findings suggest that phosphorylation of EWSR1/FLI1 at Thr 79 promotes the co-localization of EWSR1/FLI1 and Aurora B on the chromosomes during prophase and metaphase, and in addition, impairs the localization of Aurora B during anaphase, leading to induction of aneuploidy. This is the first demonstration of the mechanism for EWSR1/FLI1-dependent induction of aneuploidy associated with mitotic dysfunction, and the identification of the phosphorylation of the Thr 79 of EWSR1/FLI1 as a critical residue required for this induction.
    Journal
    |
    EWSR1 (EWS RNA Binding Protein 1) • FLI1 (Fli-1 Proto-Oncogene ETS Transcription Factor)
    |
    EWSR1 mutation
    4years
    Malignant gastrointestinal neuroectodermal tumor: clinicopathological analyses of four cases (PubMed, Zhonghua Bing Li Xue Za Zhi)
    The diagnosis is based on clinicopathological, immunophenotypic, and molecular pathology features. The primary treatment for MGNET is complete surgical excision and chemotherapy; the prognosis is poor.
    Clinical • Retrospective data • Journal
    |
    KIT (KIT proto-oncogene, receptor tyrosine kinase) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • EWSR1 (EWS RNA Binding Protein 1) • SOX10 (SRY-Box 10) • VIM (Vimentin)
    |
    KIT mutation • EWSR1 mutation
    over4years
    SRF-FOXO1 and SRF-NCOA1 Fusion Genes Delineate a Distinctive Subset of Well-differentiated Rhabdomyosarcoma. (PubMed, Am J Surg Pathol)
    These 3 tumors define a new group of RMS associated with a fusion of the SRF gene. FOXO1 rearrangements, usually used to confirm the diagnosis of alveolar RMS and identify poor-outcome RMSs, were identified in a nonalveolar RMS for the first time.
    Journal
    |
    PTCH1 (Patched 1) • EWSR1 (EWS RNA Binding Protein 1) • FOXO1 (Forkhead box O1)
    |
    EWSR1 mutation