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    GENE:

    EP400 (E1A Binding Protein P400)

    i
    Other names: EP400, E1A Binding Protein P400, CAGH32, KIAA1498, KIAA1818, TNRC12, P400, Trinucleotide Repeat-Containing Gene 12 Protein, Trinucleotide Repeat Containing 12, P400 KDa SWI2/SNF2-Related Protein, E1A-Binding Protein P400, CAG Repeat Protein 32, Domino Homolog, HDomino(P400), DKFZP434I225, HDomino, P400 SWI2/SNF2-Related Protein
    16d
    Comprehensive next generation sequencing of middle ear neuroendocrine tumors. (PubMed, Ann Diagn Pathol)
    This is similar to well-differentiated NETs of other organs, in particular the small intestine and lung. Overall, our findings support the grouped classification of MeNET within the larger NET scheme.
    Journal • Next-generation sequencing • Tumor mutational burden
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    TMB (Tumor Mutational Burden) • HRAS (Harvey rat sarcoma viral oncogene homolog) • DNMT3A (DNA methyltransferase 1) • RB1 (RB Transcriptional Corepressor 1) • NF1 (Neurofibromin 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ATRX (ATRX Chromatin Remodeler) • STAG2 (Stromal Antigen 2) • EP400 (E1A Binding Protein P400)
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    TMB-L • SF3B1 mutation • RB1 deletion • HRAS mutation
    1m
    A comprehensive review of ossifying fibromyxoid tumor: insights into its clinical, pathological, and molecular landscape. (PubMed, J Pathol Transl Med)
    This review underscores the importance of an integrated diagnostic approach- incorporating histopathological, immunohistochemical, and molecular data- to accurately classify OFMT and distinguish it from its mimics. Expanding awareness of its morphologic and molecular spectrum is essential for precise diagnosis, optimal patient management, and a deeper understanding of this enigmatic neoplasm.
    Journal
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    TFE3 (Transcription Factor Binding To IGHM Enhancer 3) • EP400 (E1A Binding Protein P400)
    3ms
    Resurfacing Threats: Metastatic Ossifying Fibromyxoid Tumor Emerging After Almost Two Decades. (PubMed, Genes Chromosomes Cancer)
    This case demonstrates the rare unpredictable potential of even typical OFMT to develop multiple soft tissue metastases after 19 years. Therefore, clinicians need to be aware of the metastatic potential of this tumor. Comprehensive and prolonged postoperative follow-up is necessary to track local recurrences and metastases.
    Journal
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    EP400 (E1A Binding Protein P400)
    4ms
    Chromatin remodeling activity of EP400 safeguards chromosomal stability by preventing CENP-A mislocalization. (PubMed, Cell Rep)
    Importantly, EP400K1085G cells exhibit CIN phenotypes in stable, near-diploid RPE1 cells with wild-type p53. In summary, our findings expand the role of EP400 from nucleosome destabilization for histone exchange to preventing the stable association of CENP-A with non-centromeric regions and CIN.
    Journal
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    EP400 (E1A Binding Protein P400) • CENPA (Centromere protein A)
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    TP53 wild-type
    5ms
    Ossification-deficient atypical ossifying fibromyxoid tumor of submandibular gland with PHF1::EP400 fusion: diagnostic challenges. (PubMed, Oral Maxillofac Surg)
    In this report, we present a rare case of OFMT arising in the submandibular region without histological evidence of ossification. This case give prominence to molecular detection in diagnosing morphologically ambiguous tumors and expands the clinicopathological spectrum of OFMT regarding anatomical distribution and histological variants.
    Journal
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    CD34 (CD34 molecule) • VIM (Vimentin) • EP400 (E1A Binding Protein P400)
    5ms
    Genomic Insights into Tumorigenesis in Newly Diagnosed Multiple Myeloma. (PubMed, Diagnostics (Basel))
    Emphasis was given to novel genes discovered in newly diagnosed MM patients, that might contribute to the tumorigenesis that takes place. This study contributes to the understanding of the genetic basis of plasma cell dyscrasias and the transition events between the stages, offering insights that could aid in early detection and diagnosis, guide the development of personalized therapeutic strategies, and improve the understanding of mechanisms responsible for resistance to existing therapies.
    Journal
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    HLA-B (Major Histocompatibility Complex, Class I, B) • EP400 (E1A Binding Protein P400) • HLA-C (Major Histocompatibility Complex, Class I, C)
    6ms
    Uterine Sarcomas with Recurrent KDM2B Gene Fusions: Three Cases of a Possible Novel Subtype of High-Grade Endometrial Stromal Sarcoma. (PubMed, Mod Pathol)
    Clustering analysis based on RNA expression profiling revealed tight clustering of all three tumors within the broad group of high-grade endometrial stromal sarcomas. Based on the overall clinicopathologic and genomic features, we suggest that these tumors may represent a novel subtype of uterine sarcoma and may be best classified as high-grade endometrial stromal sarcoma, although additional confirmatory studies are needed.
    Journal
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    CCND1 (Cyclin D1) • MDM2 (E3 ubiquitin protein ligase) • BCOR (BCL6 Corepressor) • EP400 (E1A Binding Protein P400)
    6ms
    Protein arginine methyltransferase 5 sustains Tip60-EP400 complex via SRSF1 in Merkel cell carcinoma. (PubMed, Life Sci Alliance)
    PRMT5 inhibition disrupts this recruitment, leading to widespread splicing defects, including exon skipping and intron retention. These results provide new insights into PRMT5's role in splicing regulation and may have broader implications for targeting splicing dysregulation in MYC-driven cancers.
    Journal
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    TP53 (Tumor protein P53) • MTAP (Methylthioadenosine Phosphorylase) • MYCL (MYCL Proto-Oncogene BHLH Transcription Factor) • PRMT5 (Protein Arginine Methyltransferase 5) • EP400 (E1A Binding Protein P400)
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    TP53 wild-type • MTAP deletion
    1year
    Exploratory profiling of metabolites in cerebrospinal fluid using a commercially available targeted LC-MS based metabolomics kit to discriminate leptomeningeal metastasis. (PubMed, Cancer Metab)
    Using a commercial targeted liquid chromatography-mass spectrometry (LC-MS) metabolomics kit, we were able to differentiate LM from HC and PBT. Most of the discriminative metabolites among different diseases were lipid metabolites, for which their CNS distribution and quantification in different cell types are largely unknown, whereas amino acids, biogenic amines, and hexoses failed to show significant differences. Future validation studies with larger, controlled cohorts should be performed, and hopefully, the kit may expand its metabolite coverage for unique cancer cell glucose metabolism.
    Journal • Metabolomic study
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    EP400 (E1A Binding Protein P400)
    1year
    Ossifying fibromyxoid tumours: A case series. (PubMed, Eur J Cancer)
    Given the limited clinical experience with OFMT, multidisciplinary tumour boards are crucial for tailoring individualized treatment strategies. This study contributes to the growing body of literature on OFMT, providing a foundation for future research.
    Journal
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    TFE3 (Transcription Factor Binding To IGHM Enhancer 3) • EP400 (E1A Binding Protein P400)
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    TFE3 fusion
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    gemcitabine • doxorubicin hydrochloride • dacarbazine
    1year
    Complex immunohistochemical and molecular study on 5 cases of ovarian juvenile granulosa cell tumors reveals a consistent alteration in the PI3K/AKT/mTOR signaling pathway. (PubMed, Diagn Pathol)
    The results of our study further support the hypothesis that the pathogenesis of JGCT may be driven by activation of the PIK3/AKT/mTOR pathway. These findings could potentially have future therapeutic implications, as treatment strategies targeting the PTEN/mTOR pathways are currently under investigation.
    Journal • PD(L)-1 Biomarker • IO biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • AR (Androgen receptor) • ARID1A (AT-rich interaction domain 1A) • TERT (Telomerase Reverse Transcriptase) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • WT1 (WT1 Transcription Factor) • NKX2-1 (NK2 Homeobox 1) • CA9 (Carbonic anhydrase 9) • MUC4 (Mucin 4, Cell Surface Associated) • SALL4 (Spalt Like Transcription Factor 4) • CD99 (CD99 Molecule) • EP400 (E1A Binding Protein P400) • GATA3 (GATA binding protein 3) • NAPSA (Napsin A Aspartic Peptidase) • FOXL2 (Forkhead Box L2)
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    PD-L1 expression • HER-2 negative • HER-2 expression • PTEN expression • AKT1 mutation • TERT mutation • TP53 expression • MUC4 expression • CA9 expression
    1year
    TBP bookmarks and preserves neural stem cell fate memory by orchestrating local chromatin architecture. (PubMed, Mol Cell)
    Importantly, TBP achieves its mitotic retention through recruiting the chromatin remodeler EP400, which in turn increases local chromatin accessibility via depositing H2A.Z. Thus, local chromatin remodeling ensures mitotic bookmarking, which may represent a general principle underlying the preservation of cell fate memory.
    Journal
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    EP400 (E1A Binding Protein P400)