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    GENE:

    MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2)

    i
    Other names: MLL2, myeloid/lymphoid or mixed-lineage leukemia 2
    23d
    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
    3ms
    Genomic alteration and clinical significance of circulating tumor DNA in patients with advanced urothelial cancer: SCRUM-Japan monstar screen project. (PubMed, NPJ Precis Oncol)
    A total of 133 Japanese patients (SCRUM-Japan cohort) were analyzed, including serial ctDNA sampling before and after platinum-based chemotherapy or pembrolizumab...In contrast, concordance between tissue and ctDNA profiling was only 46%, with ctDNA identifying additional actionable mutations not detected in tissue. These findings underscore the potential of ctDNA as a non-invasive tool for dynamic molecular monitoring and prognostication in aUC, supporting its integration into clinical practice.
    Journal • PD(L)-1 Biomarker • Circulating tumor DNA
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    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • KMT2D (Lysine Methyltransferase 2D) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2)
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    FoundationOne® Liquid CDx
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    Keytruda (pembrolizumab)
    4ms
    A Study of LY3405105 in Participants With Advanced Cancer (clinicaltrials.gov)
    P1, N=54, Terminated, Eli Lilly and Company | Phase classification: P1a/1b --> P1
    Phase classification
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    ARID1A (AT-rich interaction domain 1A) • KMT2D (Lysine Methyltransferase 2D) • KMT2C (Lysine Methyltransferase 2C) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • KDM6A (Lysine Demethylase 6A) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2) • SMARCA2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2) • SS18 (SS18 Subunit Of BAF Chromatin Remodeling Complex)
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    LY3405105
    4ms
    Identification of Anticancer Targets in Ovarian Cancer Using Genomic Drug Sensitivity Data. (PubMed, Int J Mol Sci)
    Notably, low ACACA expression in patients with low SMAD4 expression was associated with improved survival, indicating its relevance in overcoming PARP inhibitor resistance. This study contributes to predicting clinical outcomes in ovarian cancer and developing personalized treatment strategies.
    Journal • BRCA Biomarker • PARP Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • NF1 (Neurofibromin 1) • KMT2D (Lysine Methyltransferase 2D) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • SMAD4 (SMAD family member 4) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2) • ACACA (Acetyl-CoA Carboxylase Alpha)
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    MLL mutation
    5ms
    Comprehensive Genomic Profiles of Melanoma in Veterans Compared to Reference Databases. (PubMed, Fed Pract)
    The melanomas found in these veterans showed a significantly higher frequency of variants in CDKN2A/B; a significantly lower frequency of variants in ROS1, GRIN2A, KDR, KMT2C (MLL3), KMT2D (MLL2), LRP1B, PTPRT, PTCH1, FAT4, and PREX2; and a significantly higher frequency of tumor mutational burdens exceeding 10 mutations/megabase. The presence of statistically significant differences between the genomic findings from the veterans' melanomas and those of general population melanomas from reference databases suggests that additional research is warranted to corroborate these differences and clarify their etiologic, prognostic, and therapeutic relevance.
    Journal • Tumor mutational burden
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    TMB (Tumor Mutational Burden) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • KDR (Kinase insert domain receptor) • KMT2D (Lysine Methyltransferase 2D) • LRP1B (LDL Receptor Related Protein 1B) • PTCH1 (Patched 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • KMT2C (Lysine Methyltransferase 2C) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2) • PTPRT (Protein tyrosine phosphatase receptor type T) • PREX2 (Phosphatidylinositol-3,4,5-Trisphosphate Dependent Rac Exchange Factor 2) • FAT4 (FAT Atypical Cadherin 4) • GRIN2A (Glutamate Ionotropic Receptor NMDA Type Subunit 2A)
    5ms
    The role of the lysine histone methylase KMT2D in chronic myeloid leukemia. (PubMed, Front Pharmacol)
    In the present study, we analyzed the role of the KMT2D p. (Arg191Trp) variant in imatinib-resistant CML, which was recurrently acquired in imatinib resistance in vitro...Overall, our findings demonstrate that the loss of the tumor suppressor KMT2D promotes TKI resistance in CML. Thus, KMT2D status could serve as an additional biomarker for TKI resistance, while restoration of its expression might be a therapeutic option to overcome this resistance.
    Journal
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    ABL1 (ABL proto-oncogene 1) • KMT2D (Lysine Methyltransferase 2D) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2) • CCNE2 (Cyclin E2)
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    imatinib
    5ms
    Uncovering chromatin factor landscapes in head and neck squamous cell carcinoma. (PubMed, Oral Oncol)
    Components of the chromatin remodeling complex, such as ACTL6A, SMARCA1 and MORF4L2, were correlated with the "cold" tumor phenotype in both HPV-negative and HPV-positive HNSCC. This brief study highlights epigenetic chromatin factors that may drive oncogenesis and immune evasion, thereby identifying novel targets for cancer therapy in clearly defined, epigenetically-driven subtypes of HPV-negative and HPV-positive HNSCC.
    Journal
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    KMT2D (Lysine Methyltransferase 2D) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2) • UHRF1 (Ubiquitin Like With PHD And Ring Finger Domains 1) • MORF4L2 (Mortality Factor 4 Like 2)
    6ms
    Clinical and Molecular Differences Suggest Different Responses to Immune Checkpoint Inhibitors in Microsatellite-Stable Solid Tumors with High Tumor Mutational Burden. (PubMed, Cancers (Basel))
    Mutations in the MYC pathway (p = 0.03) and the MLL2 gene (p = 0.014) were associated with poorer responses, while mutations in the TERT gene were linked to better responses (p = 0.031). Patients without liver metastasis, mutations in TERT, and TMB ≥ 15 mut/Mb are associated with superior response, while mutations in the MYC pathway and MLL2 are associated with worse responses.
    Journal • Checkpoint inhibition • Tumor mutational burden • IO biomarker
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    TMB (Tumor Mutational Burden) • TERT (Telomerase Reverse Transcriptase) • KMT2D (Lysine Methyltransferase 2D) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2)
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    TMB-H
    7ms
    Molecular characterization of NUT carcinoma: a report from the NUT carcinoma registry. (PubMed, Clin Cancer Res)
    Standard DNA NGS detects less than a quarter of NUT carcinomas; RNA-based fusion testing, or NUT IHC/NUTM1 FISH, should be routine for suspected NC. NCs are enriched in co-occurring epigenetic, cell cycle, and DNA repair alterations, warranting further evaluation.
    Journal • BRCA Biomarker • PD(L)-1 Biomarker • IO biomarker
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    PD-L1 (Programmed death ligand 1) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • FGFR3 (Fibroblast growth factor receptor 3) • KMT2D (Lysine Methyltransferase 2D) • LRP1B (LDL Receptor Related Protein 1B) • FAT1 (FAT atypical cadherin 1) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2) • BRD4 (Bromodomain Containing 4) • NUTM1 (NUT Midline Carcinoma Family Member 1)
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    PD-L1 expression • PIK3CA mutation • RET mutation
    7ms
    MK3475-A53: Study of SBRT/Olaparib Followed by Pembrolizumab/Olaparib in Gastric Cancers (clinicaltrials.gov)
    P2, N=9, Active, not recruiting, University of Colorado, Denver | Recruiting --> Active, not recruiting | N=26 --> 9 | Trial primary completion date: Dec 2025 --> Feb 2025
    Enrollment closed • Enrollment change • Trial primary completion date
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    HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • HRD (Homologous Recombination Deficiency) • BAP1 (BRCA1 Associated Protein 1) • KMT2D (Lysine Methyltransferase 2D) • ATRX (ATRX Chromatin Remodeler) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • WRN (WRN RecQ Like Helicase) • FANCG (FA Complementation Group G) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2) • SLX4 (SLX4 Structure-Specific Endonuclease Subunit)
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    HRD
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    Keytruda (pembrolizumab) • Lynparza (olaparib)
    12ms
    Genomic Profiling of Extensive Stage Small-Cell Lung Cancer Patients Identifies Molecular Factors Associated with Survival. (PubMed, Lung Cancer (Auckl))
    In ES-SCLC, TMB is associated with worse survival in patients treated with CT alone, and with better survival in patients treated with CT+IO, whether considered as a continuous or a dichotomized variable, at different cut-offs. Alterations in epigenetic factors are also associated to better patient prognosis.
    Journal • Tumor mutational burden • IO biomarker
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    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • KMT2D (Lysine Methyltransferase 2D) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2)
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    TP53 mutation • TMB-H • TMB-L
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    FoundationOne® CDx
    1year
    FGFR2/3 Gene Alterations and Clinical Outcomes in Advanced/Metastatic Urothelial Cancer in Japan: MONSTAR-SCREEN Database Study. (PubMed, Cancer Sci)
    This study revealed that one in eight a/m UC patients had FGFR2/3 GAs, and a few changes were observed in FGFR GA status before and after treatment. Genetic testing will be beneficial for the selection of appropriate treatments after a diagnosis of a/m UC.
    Clinical data • Journal
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    FGFR2 (Fibroblast growth factor receptor 2) • FGFR3 (Fibroblast growth factor receptor 3) • FGFR1 (Fibroblast growth factor receptor 1) • TACC3 (Transforming acidic coiled-coil containing protein 3) • TET2 (Tet Methylcytosine Dioxygenase 2) • KMT2D (Lysine Methyltransferase 2D) • CHEK2 (Checkpoint kinase 2) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2)
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    FGFR3-TACC3 fusion • FGFR mutation