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    BIOMARKER:

    TSC2 mutation

    i
    Other names: TSC2, TSC Complex Subunit 2, Protein Phosphatase 1, Regulatory Subunit 160, Tuberous Sclerosis 2 Protein, Tuberin, TSC4, Tuberous Sclerosis 2, PPP1R160
    Entrez ID:
    7249
    Related biomarkers:
    Expression
    Mutation
    CNA
    Others
    almost2years
    We once showed a case of a patient with HL with an impressive response to everolimus that had a TSC2 mutation. In the copanlisib trial in t-cell lymphoma, all responders had TSC2 mut. Maybe you should look for this mutation in responders... (@GuiperiniMD)
    Clinical
    |
    TSC2 (TSC complex subunit 2)
    |
    TSC2 mutation
    |
    everolimus • Aliqopa (copanlisib)
    over2years
    Genetic profile of primary plasma cell leukemia in Korea: comparison with plasma cell myeloma https://t.co/K9EGltz4Fu The most frequently mutated genes were TP53, TSC2, and TYK2 #mmsm #MedEd #MedTwitter #MYELOMA (@Abdallah81MD)
    TP53 (Tumor protein P53) • TSC2 (TSC complex subunit 2) • TYK2 (Tyrosine Kinase 2)
    |
    TP53 mutation • TSC2 mutation
    almost3years
    ESC-RCC, AE1/AE3, TSC1/TSC2 mutation. EVT, CK7, TSC/mTOR mutation (@SumantaDas_7)
    mTOR (Mechanistic target of rapamycin kinase) • TSC2 (TSC complex subunit 2) • TSC1 (TSC complex subunit 1)
    |
    TSC1 mutation • TSC2 mutation • MTOR mutation
    3years
    Everolimus-low response rate (7%) in pan-cancer mutation+ (TSC1, TSC2, TSC1+TSC2, mTOR) basket study (n=30)-1 of 2 with response had upper tract #urothelialcarcinoma with biallelic TSC1 alteration + high TMB: @danafarber @sloan_kettering #DrKwiatkowski https://t.co/OYkmMUWhwD (@sonpavde)
    Pan tumor
    |
    TMB (Tumor Mutational Burden) • mTOR (Mechanistic target of rapamycin kinase) • TSC2 (TSC complex subunit 2) • TSC1 (TSC complex subunit 1)
    |
    TMB-H • TSC1 mutation • TSC2 mutation • MTOR mutation
    |
    everolimus