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    GENE:

    KMT2D (Lysine Methyltransferase 2D)

    i
    Other names: KMT2D, Lysine Methyltransferase 2D, Histone-Lysine N-Methyltransferase 2D, Myeloid/Lymphoid Or Mixed-Lineage Leukemia 2, Lysine (K)-Specific Methyltransferase 2D, Trinucleotide Repeat Containing 21, Lysine N-Methyltransferase 2D, ALL1-Related Protein, MLL2, MLL4, ALR, Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein, Histone-Lysine N-Methyltransferase MLL2, Truncated Lysine Methyltransferase 2D, Kabuki Mental Retardation Syndrome, Kabuki Make-Up Syndrome, CAGL114, KABUK1, TNRC21, AAD10
    4d
    NCI-2023-03181: Glofitamab With Obinutuzumab, Venetoclax, and Lenalidomide for the Treatment of Patients With Newly Diagnosed High Risk Mantle Cell Lymphoma (clinicaltrials.gov)
    P1/2, N=50, Recruiting, City of Hope Medical Center | Trial completion date: Feb 2026 --> Feb 2027 | Trial primary completion date: Feb 2026 --> Feb 2027
    Trial completion date • Trial primary completion date
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    TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CCND1 (Cyclin D1) • KMT2D (Lysine Methyltransferase 2D) • NOTCH2 (Notch 2) • SOX11 (SRY-Box Transcription Factor 11) • NSD2 (Nuclear Receptor Binding SET Domain Protein 2)
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    TP53 mutation • Chr t(11;14)
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    Venclexta (venetoclax) • lenalidomide • Gazyva (obinutuzumab) • Columvi (glofitamab-gxbm)
    6d
    Efficacy, Safety, and Biomarker Analysis of Toripalimab Monoclonal Antibody Combined with Gemcitabine and Cisplatin Chemotherapy as Neoadjuvant Treatment in Muscle-Invasive Bladder Cancer: A Phase II Clinical Trial. (PubMed, J Urol)
    In the patients with PD-L1 expression < 5% (n=11), the pCR rate was 36.4% (4/11) and the pathological response rate was 63.6% (7/11). Toripalimab combined with GC chemotherapy demonstrates a good efficacy and safety, making it a promising therapeutic strategy for NAT of MIBC.
    P2 data • Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • KMT2D (Lysine Methyltransferase 2D)
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    PD-L1 expression • HER-2 mutation
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    cisplatin • gemcitabine • Loqtorzi (toripalimab-tpzi)
    6d
    Toripalimab in Patients with Previously Treated Advanced Upper Tract Urothelial Carcinoma: A Subgroup Analysis of the Phase II POLARIS-03 Trial. (PubMed, Oncologist)
    Toripalimab demonstrated promising activity and manageable safety in pretreated mUTUC. High TMB was associated with numerically improved outcomes, suggesting its potential role as an exploratory biomarker for response to PD-1 blockade in this population.
    P2 data • Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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    PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • FGFR3 (Fibroblast growth factor receptor 3) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • KMT2D (Lysine Methyltransferase 2D) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • NECTIN4 (Nectin Cell Adhesion Molecule 4)
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    PD-L1 expression • TP53 mutation • TMB-H
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    Loqtorzi (toripalimab-tpzi)
    13d
    Targeted gene sequencing and bioinformatics analysis of a patient with gallbladder adenosquamous carcinoma: a case report. (PubMed, Front Oncol)
    Comparative analyses with other gallbladder carcinoma subtypes revealed GBASC to have distinct clinical phenotypes, molecular alterations, functional characteristics, and enriched signaling pathways. Moreover, there is an urgent need for standardized treatment protocols.
    Journal • Tumor mutational burden • IO biomarker
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    EGFR (Epidermal growth factor receptor) • TMB (Tumor Mutational Burden) • KMT2A (Lysine Methyltransferase 2A) • KMT2D (Lysine Methyltransferase 2D) • NF2 (Neurofibromin 2) • CDK6 (Cyclin-dependent kinase 6) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • LATS2 (Large Tumor Suppressor Kinase 2) • RECQL4( RecQ Like Helicase 4) • EXT1 (Exostosin Glycosyltransferase 1)
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    EGFR mutation • ATM mutation
    13d
    Chronic lymphocytic leukemia with IGH/BCL2 fusion and clonal heterogeneity: phenotypic and molecular profiling analysis of a rare case. (PubMed, Ann Hematol)
    NGS revealed that a common progenitor cell with BCL2-IgH translocation and mutations in TP53, KMT2A, KMT2C, and KMT2D gave rise to two distinct subclones: one (CD5 + CD23+CD200+) CLL driven by mutations in TNFAIP3 and BCORL1, and the other (CD5-CD23-CD200-) driven by mutations in EP300, NOTCH1, and BCL2. This case highlights the significance of clonal heterogeneity in CLL and underscores the crucial role of MFC, flow sorting, and molecular genetics in diagnosing and understanding the complex evolution of this disease.
    Journal • IO biomarker
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    TP53 (Tumor protein P53) • BCL2 (B-cell CLL/lymphoma 2) • NOTCH1 (Notch 1) • KMT2A (Lysine Methyltransferase 2A) • IGH (Immunoglobulin Heavy Locus) • KMT2D (Lysine Methyltransferase 2D) • KMT2C (Lysine Methyltransferase 2C) • EP300 (E1A binding protein p300) • TNFAIP3 (TNF Alpha Induced Protein 3) • CD5 (CD5 Molecule) • CD200 (CD200 Molecule) • BCORL1 (BCL6 Corepressor Like 1) • FCER2 (Fc Fragment Of IgE Receptor II)
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    TP53 mutation • IGH mutation • MLL mutation
    14d
    EBV-Driven NK/T-Cell Lymphoproliferative Disorders: Clinical Diversity and Molecular Insights. (PubMed, Lymphatics)
    These findings suggest all EBV+ NK/T-cell LPDs exist on a biological continuum of viral oncogenesis. The integration of clinical, pathological, and molecular information aims to create a more accurate classification system, enabling better risk evaluation and tailored treatment strategies for patients with these complex disorders.
    Journal
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    KMT2D (Lysine Methyltransferase 2D) • DDX3X (DEAD-Box Helicase 3 X-Linked)
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    TP53 mutation
    15d
    Follicular Lymphoma with Signet Ring Cell Morphology: Clinicopathologic Analysis of 31 Cases. (PubMed, Hum Pathol)
    We show that SR cells can be numerous in FL, but otherwise these cases resemble classic FL. We also provide results of next generation sequencing data on 4 cases which heretofore has not been reported.
    Journal • IO biomarker
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    BCL2 (B-cell CLL/lymphoma 2) • BCL6 (B-cell CLL/lymphoma 6) • KMT2D (Lysine Methyltransferase 2D) • TNFRSF14 (TNF Receptor Superfamily Member 14) • MME (Membrane Metalloendopeptidase)
    17d
    Ibrutinib in Treating Participants With Untreated High Risk Smoldering Mantle Cell Lymphoma (clinicaltrials.gov)
    P2, N=20, Active, not recruiting, M.D. Anderson Cancer Center | Trial completion date: Feb 2026 --> Feb 2028 | Trial primary completion date: Feb 2026 --> Feb 2028
    Trial completion date • Trial primary completion date
    |
    TP53 (Tumor protein P53) • CD20 (Membrane Spanning 4-Domains A1) • CCND1 (Cyclin D1) • KMT2D (Lysine Methyltransferase 2D) • NOTCH2 (Notch 2) • BIRC3 (Baculoviral IAP repeat containing 3) • NSD2 (Nuclear Receptor Binding SET Domain Protein 2)
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    TP53 mutation • CD20 positive • TP53 wild-type
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    Imbruvica (ibrutinib)
    23d
    Glofitamab Plus Ibrutinib With Obinutuzumab for the Treatment of Patients With Mantle Cell Lymphoma, IGNITE MCL Trial (clinicaltrials.gov)
    P1/2, N=27, Recruiting, OHSU Knight Cancer Institute | Not yet recruiting --> Recruiting
    Enrollment open
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    TP53 (Tumor protein P53) • CD20 (Membrane Spanning 4-Domains A1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CCND1 (Cyclin D1) • KMT2D (Lysine Methyltransferase 2D) • NOTCH2 (Notch 2) • PAX5 (Paired Box 5) • CD4 (CD4 Molecule) • CD5 (CD5 Molecule) • SOX11 (SRY-Box Transcription Factor 11) • NSD2 (Nuclear Receptor Binding SET Domain Protein 2)
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    TP53 mutation • Chr del(17p) • Chr t(11;14) • CDKN2A deletion
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    Imbruvica (ibrutinib) • Gazyva (obinutuzumab) • Columvi (glofitamab-gxbm)
    24d
    Bile duct tumor thrombus (intraductal polypoid growth)-positive intrahepatic cholangiocarcinoma: clinicopathologic and genomic analysis. (PubMed, J Pathol)
    These results highlight the importance of evaluating BDTT in SDT, as it may be the main route of hilar extension in aggressive cases.
    Journal
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    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • ARID1A (AT-rich interaction domain 1A) • NF1 (Neurofibromin 1) • BAP1 (BRCA1 Associated Protein 1) • KMT2D (Lysine Methyltransferase 2D) • MUC1 (Mucin 1) • SMAD4 (SMAD family member 4) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2) • TGFBR2 (Transforming Growth Factor Beta Receptor 2) • MUC4 (Mucin 4, Cell Surface Associated) • CDX2 (Caudal Type Homeobox 2) • MUC2 (Mucin 2) • RSPO3 (R-Spondin 3) • CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A) • MUC17 (Mucin 17) • MUC5AC (Mucin 5AC) • MUC6 (Mucin 6) • PTPRK (Protein Tyrosine Phosphatase Receptor Type K) • TGFBR1 (Transforming Growth Factor Beta Receptor 1)
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    FGFR2 mutation • FGFR2 fusion • FGFR2 rearrangement
    26d
    Survival and multi-omics analysis of immunotherapy-based conversion treatment for initially unresectable gastric cancer. (PubMed, Front Immunol)
    ICIs-based conversion therapy demonstrates promising survival benefits and manageable safety profiles for patients with unresectable locally advanced or oligometastatic gastric cancer, and provides real-world evidence for a potential treatment strategy. Additionally, multi-omics findings have revealed drug resistance mechanisms and potential biomarkers of efficacy.
    Retrospective data • Journal • IO biomarker
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    KMT2D (Lysine Methyltransferase 2D)
    27d
    Genomic Profiling of Laryngeal Squamous Cell Carcinoma Reveals Novel Biomarkers for Precision Medicine. (PubMed, J Pers Med)
    These insights support development of targeted strategies, including immunotherapies such as pembrolizumab in TP53-altered tumors. These insights into the genomic heterogeneity of LSCC lay the groundwork for developing targeted therapeutic strategies and patient stratification, ultimately advancing a personalized medicine approach to this disease.
    Journal • PD(L)-1 Biomarker • IO biomarker
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    TP53 (Tumor protein P53) • NOTCH1 (Notch 1) • KMT2D (Lysine Methyltransferase 2D) • FAT1 (FAT atypical cadherin 1) • AVEN (Apoptosis And Caspase Activation Inhibitor)
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    TP53 mutation
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    Keytruda (pembrolizumab)