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    BIOMARKER:

    EZH2 Y646F

    i
    Other names: EZH2, ENX-1, EZH1, KMT6, KMT6A, Enhancer of zeste 2 polycomb repressive complex 2 subunit
    Entrez ID:
    2146
    Related biomarkers:
    Expression
    Mutation
    CNA
    Others
    Related tests:
    12ms
    PARALLEL TESTING OF LIQUID BIOPSY (CTDNA) AND TISSUE BIOPSY SAMPLES REVEALS A HIGHER FREQUENCY OF TARGETABLE EZH2 MUTATIONS IN FOLLICULAR LYMPHOMA (EHA 2023)
    In this study, we performed an in-depth spatio-temporal analysis of EZH2 mutations in FL using tissue- and liquid biopsy samples and identified gain-of-function mutations in a considerably higher proportion of patients than previously reported (42% vs 27%) owing to the ability of this approach to resolve spatial heterogeneity. This expands the subset of FL patients who most likely would benefit from EZH2 inhibitor therapy and highlights the need for parallel EZH2 testing in LB and TB samples when considering EZH2 inhibitor therapy. EZH2, ctDNA, Follicular lymphoma
    Liquid biopsy • Circulating tumor DNA • Biopsy
    |
    EZH2 mutation • EZH2 A682G • EZH2 Y646 • EZH2 Y646F
    over1year
    Activating EZH2 mutations define a new subset of aggressive Ewing sarcomas (Sarcoma-RC 2023)
    While this aggressive subset is small, it is of particular therapeutic interest given the availability of EZH2 inhibitors and because overexpressed CTAs may also make it a candidate for immunotherapy. Legal entity responsible for the study The authors.
    IO biomarker
    |
    TP53 (Tumor protein P53) • EZH2 (Enhancer of zeste 2 polycomb repressive complex 2 subunit) • EWSR1 (EWS RNA Binding Protein 1) • STAG2 (Stromal Antigen 2) • MAGEC1 (MAGE Family Member C1)
    |
    EZH2 mutation • STAG2 mutation • EZH2 overexpression • EZH2 Y646 • EZH2 Y646F
    |
    MSK-IMPACT