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    BIOMARKER:

    JAK3 M511I

    i
    Other names: JAK3, Janus Kinase 3, Tyrosine-Protein Kinase JAK3, Leukocyte Janus Kinase, JAK-3, L-JAK, Janus Kinase 3 (A Protein Tyrosine Kinase Leukocyte), JAK3_HUMAN, JAKL, LJAK
    Entrez ID:
    3718
    Related biomarkers:
    Mutation
    CNA
    over1year
    Genomic traits of therapeutic response to anti-PD-1 therapy in peripheral T cell lymphoma (ESMO 2023)
    Methods We enrolled 89 peripheral T cell lymphoma (PTCL) patients in phase II clinical trial of geptanolimab and performed targeted next-generation sequencing for 440 cancer-associated genes...Conclusions In this study we comprehensively depicted the pre-treatment mutation profiles of PTCL and identified genetic alterations with prognostic value for anti-PD-1 therapy. Notably, we found JAK3 mutations which are vital and prevalent in PTCL reduced PD-L1 levels in vivo and in vitro, which are of great clinical and biological sense.
    Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
    |
    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • KMT2D (Lysine Methyltransferase 2D) • LRP1B (LDL Receptor Related Protein 1B) • KMT2C (Lysine Methyltransferase 2C) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • JAK3 (Janus Kinase 3) • PI3K (Phosphoinositide 3-kinases)
    |
    PD-L1 expression • TP53 mutation • TMB-H • JAK3 mutation • JAK3 M511I • SETD2 mutation
    |
    Aibining (geptanolimab)
    almost2years
    Characterization of a Novel Type of Mature CD4-Positive T-cell Leukemia that Primarily Involves Peripheral Blood and Bone Marrow (USCAP 2023)
    The cases presented exhibit distinctive morphologic, immunophenotypic and genetic features and lack TCL1 or MTCP1 rearrangement, unlike most cases of T-PLL. We suggest that these cases are sufficiently distinctive to be considered as their own entity.
    IO biomarker
    |
    DNMT3A (DNA methyltransferase 1) • CD8 (cluster of differentiation 8) • TNFRSF8 (TNF Receptor Superfamily Member 8) • CD4 (CD4 Molecule) • JAK3 (Janus Kinase 3) • NCAM1 (Neural cell adhesion molecule 1) • CD5 (CD5 Molecule) • MME (Membrane Metalloendopeptidase) • CD52 (CD52 Molecule) • CD7 (CD7 Molecule) • B3GAT1 (Beta-1,3-Glucuronyltransferase 1)
    |
    ATM mutation • DNMT3A mutation • JAK3 mutation • JAK3 M511I • TCL1A rearrangement • CD4 positive
    almost3years
    Clinicopathologic and Genetic Features of Primary T-cell Lymphomas of the Central Nervous System: An Analysis of 11 Cases Using Targeted Gene Sequencing. (PubMed, Am J Surg Pathol)
    Immunophenotypic analysis, clonality test, and targeted gene sequencing along with clinicoradiologic evaluation, may be helpful for establishing the diagnosis of T-PCNSL. Moreover, this study demonstrates genetic alterations with potential diagnostic and therapeutic utility in T-PCNSL.
    Clinical • Journal
    |
    ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CD8 (cluster of differentiation 8) • TET2 (Tet Methylcytosine Dioxygenase 2) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • KMT2C (Lysine Methyltransferase 2C) • BCOR (BCL6 Corepressor) • ARID1B (AT-Rich Interaction Domain 1B) • CD4 (CD4 Molecule) • JAK3 (Janus Kinase 3) • POT1 (Protection of telomeres 1) • PRDM1 (PR/SET Domain 1)
    |
    TP53 mutation • ALK positive • CDKN2A deletion • TET2 mutation • CD8 positive • KMT2C mutation • NRAS G12 • JAK3 mutation • JAK3 M511I • NRAS G12S • CD4 positive