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    BIOMARKER:

    KMT2B mutation

    i
    Other names: KMT2B, Lysine Methyltransferase 2B, MLL2, TRX2, HRX2, WBP7, MLL4, Histone-Lysine N-Methyltransferase 2B, KIAA0304, CXXC10, MLL1B, Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila) 4, Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 4, Lysine (K)-Specific Methyltransferase 2B, WBP-7, Histone-Lysine N-Methyltransferase MLL4, Mixed Lineage Leukemia Gene Homolog 2, Lysine N-Methyltransferase 2B, WW Domain Binding Protein 7, WW Domain-Binding Protein 7, Trithorax Homologue 2, Trithorax Homolog 2, DYT28, MRD68
    Entrez ID:
    9757
    6ms
    Molecular characteristics of early-onset compared with late-onset colorectal cancer: A case controlled study. (PubMed, Int J Surg)
    This study revealed a significantly higher MSI-H distribution rate in early-onset colorectal cancer, and EOCRC exhibits a distinct mutational signature coupled with higher PD-L1 expression. These findings hold promise in guiding personalized therapeutic strategies for improved disease management in EOCRC patients.
    Journal • Tumor mutational burden • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker
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    PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • ARID1A (AT-rich interaction domain 1A) • PBRM1 (Polybromo 1) • LRP1B (LDL Receptor Related Protein 1B) • RNF43 (Ring Finger Protein 43) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • FAT1 (FAT atypical cadherin 1) • CASP8 (Caspase 8) • FANCI (FA Complementation Group I) • KMT2B (Lysine Methyltransferase 2B) • DPYD (Dihydropyrimidine Dehydrogenase)
    |
    PD-L1 expression • MSI-H/dMMR • ATM mutation • ARID1A mutation • PBRM1 mutation • RNF43 mutation • KMT2B mutation • FANCI mutation
    9ms
    Novel KMT2B gene mutation in MUC4 positive low-grade fibromyxoid sarcoma. (PubMed, Diagn Pathol)
    Sequencing results showed that MET, EGFR, KMT2B and RET gene were mutated in LGFM, and KMT2B gene had cancer promoting effect, but there was no literature report in LGFM, which may be of certain significance for the diagnosis and treatment of LGFM.
    Journal
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    EGFR (Epidermal growth factor receptor) • RET (Ret Proto-Oncogene) • EWSR1 (EWS RNA Binding Protein 1) • CD34 (CD34 molecule) • SOX10 (SRY-Box 10) • FUS (FUS RNA Binding Protein) • MUC4 (Mucin 4, Cell Surface Associated) • KMT2B (Lysine Methyltransferase 2B) • STAT6 (Signal transducer and activator of transcription 6) • CREB3L1 (CAMP Responsive Element Binding Protein 3 Like 1)
    |
    EGFR mutation • RET mutation • KMT2B mutation
    1year
    Whole exome sequencing identifies common mutational landscape of cervix and endometrium small cell neuroendocrine carcinoma. (PubMed, Front Oncol)
    We identified the two subtypes of NECC with distinct mutated pathways and potential therapy targets. The dMMR-like type NECC and NECE may share a similar carcinogenesis process that include dysfunction of PI3K/AKT signaling, cell cycle, antiapoptotic processes, and chromatin remodeling activity.
    Journal
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    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MSI (Microsatellite instability) • KMT2B (Lysine Methyltransferase 2B)
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    MSI-H/dMMR • PIK3CA mutation • KMT2B mutation
    over1year
    Use of comprehensive molecular profiling to identify additional clinically-relevant alterations compared to targeted gene panels (AACR 2023)
    Genetic and expression alterations identified by the BostonGene Tumor PortraitTM TestEvent type analyzed in targeted panelsEvent typeCohort (N patients)*% cohort with event or # biomarkersEvents, status, or subtypeYesSNV/IndelMG (21)10%FAT4 Y558_V590delinsCAfs*5 LOF mutation COL2A1 W1348Nfs*13 LOF mutationYesSNV/IndelMD (40)6%KMT2B R1779* LOF mutation KMT2C S143Vfs*3 LOF mutation PRKDC Y4046* LOF mutationYesGermlineMG (21)5%MUTYH rs36053993, germline, pathogenicYesGermlineMD (40)3%BTD rs13078881, germline, pathogenicYesCNAMG (21)43%IGF1R amplification +8 copies MGMT loss FANCA loss MCL1 amplification +10 copies MYOCD amplification +3 copies AKT2 amplification +8 copies AMACR amplification +6 copies YAP1 amplification +7 copies TRAF2 loss EZH2 amplification +2 copies HMGA2 amplification +100 copies FRS2 amplification +61 copies DDIT3 amplification +39 copiesYesCNAMD (40)27.5%ERK1 amplification +2 copies FOXO1 amplification +5 copies HMGA2 amplification +2, +8 copies KMT2C amplification +3 copies NCOR1 amplification +7 copies TERT amplification +6 copies TSPAN31 amplification +30 copies HSF1 lossYesFusionsMG (20)10%MDM2-CR1 MDM2-TXNDC12 AC090825.1-IGF1RYesFusionsMD (39)15%FUS-KIAA1549 KIAA1549-CREB3L2 HMGA2-LRRC37A3 NAB2-STAT6 PPP1R12A-PAWR RB1-ZAR1LNoTMB**MG+MD (61)8%35.67 mut/Mb (Desmoid fibromatosis) 8.48 mut/Mb (Cutaneous angiosarcoma) 8.9 mut/Mb (Sarcoma, NOS) 16.1 mut/Mb (Skin Angiosarcoma) 18.8 mut/Mb (Undifferentiated pleomorphic sarcoma)NoMSI statusMG+MD (61)100%StableNoHLA loss of heterozygosityMG+MD (61)11%HLA-I LOH (Leiomyosarcoma (N=1), Ewing Sarcoma (N=1)) HLA-A (Dedifferentiated liposarcoma (N=1)) HLA-I (Chondrosarcoma (N=3), High-grade sarcoma (N=1))NoTargetable surface molecule overexpressionMG+MD (59)81%CTLA4, EGFR, ERBB2, MAGEA3, PD1, PDL1, TIM3, TROP, ERBB2, FOLR1, NECTIN4, ROR1, TROP2NoMolecular Functional PortraitTM typeMG+MD (59)32%FibroticNoMolecular Functional PortraitTM typeMG+MD (59)17%Immune DesertNoMolecular Functional PortraitTM typeMG+MD (59)24%Immune-Enriched, FibroticNoMolecular Functional PortraitTM typeMG+MD (59)27%Immune-Enriched, Non-fibroticNoMHC deficiencyMG+MD (59)3%MHC class I/II deficiencyNoMHC deficiencyMG+MD (59)3%MHC class II deficiencyNoFDA label biomarkersMG+MD (59)7 biomarkers- Desmoid fibromatosis, TMB 35.67 mut/Mb (Pembrolizumab) - Angiosarcoma, TMB 16.1 mut/Mb (Pembrolizumab); - Undifferentiated pleomorphic sarcoma, MSI, TMB 18.8 mut/Mb (Pembrolizumab); - Cutaneous angiosarcoma, PALB2 pathogenic germline variant (Olaparib); - Chondrosarcoma IDH1 R132L (Ivosidenib)NoTranscriptomic biomarkersMG+MD (59)29 biomarkersCD8+ T cell number; PDL1 expression level; SLFN11 expression level; SMARCB1 expression; CD8+ T cell numberNoDiagnostic biomarkersMG+MD (59)9 biomarkersNAB2-STAT6; MXI1-NUTM1; EWSR1-NR4A3; EWSR1-FLI1; EWSR1-CREB3L1; NAB2-STAT6----*RNA analysis failed for 2 patients. Therefore, any expression based analysis was performed on n=20 and n=39 for the MG and MD cohort, respectively. **Tumor mutational burden is considered high for FFPE samples when TMB>8mut/Mb.
    Clinical • Tumor mutational burden • PARP Biomarker • PD(L)-1 Biomarker • IO biomarker
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    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • RB1 (RB Transcriptional Corepressor 1) • CD8 (cluster of differentiation 8) • PD-1 (Programmed cell death 1) • MCL1 (Myeloid cell leukemia 1) • FOLR1 ( Folate receptor alpha ) • PALB2 (Partner and localizer of BRCA2) • KMT2C (Lysine Methyltransferase 2C) • ROR1 (Receptor Tyrosine Kinase Like Orphan Receptor 1) • SLFN11 (Schlafen Family Member 11) • CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4) • IGF1R (Insulin-like growth factor 1 receptor) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • KIAA1549 • EWSR1 (EWS RNA Binding Protein 1) • FANCA (FA Complementation Group A) • HAVCR2 (Hepatitis A Virus Cellular Receptor 2) • YAP1 (Yes associated protein 1) • NECTIN4 (Nectin Cell Adhesion Molecule 4) • NR4A3 (Nuclear receptor subfamily 4 group A member 3) • NCOR1 (Nuclear Receptor Corepressor 1) • AKT2 (V-akt murine thymoma viral oncogene homolog 2) • FAT4 (FAT Atypical Cadherin 4) • FLI1 (Fli-1 Proto-Oncogene ETS Transcription Factor) • FRS2 (Fibroblast Growth Factor Receptor Substrate 2) • FUS (FUS RNA Binding Protein) • MUTYH (MutY homolog) • HMGA2 (High mobility group AT-hook 2) • KMT2B (Lysine Methyltransferase 2B) • STAT6 (Signal transducer and activator of transcription 6) • CREB3L1 (CAMP Responsive Element Binding Protein 3 Like 1) • DDIT3 (DNA-damage-inducible transcript 3) • MAGEA3 (MAGE Family Member A3) • MXI1 (MAX Interactor 1) • NUTM1 (NUT Midline Carcinoma Family Member 1) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit) • COL2A1 (Collagen Type II Alpha 1 Chain) • HSF1 (Heat Shock Transcription Factor 1) • NAB2 (NGFI-A Binding Protein 2)
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    PD-L1 expression • TMB-H • HER-2 overexpression • SLFN11 expression • KMT2C mutation • FANCA mutation • IDH1 R132 • MCL1 amplification • CTLA4 expression • KMT2B mutation • TERT amplification • AKT2 amplification • CTLA4 underexpression • EZH2 amplification • FRS2 amplification • IGF1R amplification
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    Keytruda (pembrolizumab) • Lynparza (olaparib) • Tibsovo (ivosidenib)