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    BIOMARKER:

    KMT2A rearrangement

    i
    Other names: KMT2A, Lysine Methyltransferase 2A, Histone-Lysine N-Methyltransferase 2A, CXXC7, TRX1, Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila), Lysine (K)-Specific Methyltransferase 2A, CXXC-Type Zinc Finger Protein 7, Lysine N-Methyltransferase 2A, Zinc Finger Protein HRX, Trithorax-Like Protein, HTRX1, MLL1A, MLL1, MLL, Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax (Drosophila) Homolog), Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 1, Myeloid/Lymphoid Or Mixed
    Entrez ID:
    4297
    Related biomarkers:
    Expression
    Mutation
    Fusion
    Others
    Related tests:
    2d
    Blinatumomab-Related Lineage Switch of KMT2A/AFF1-Rearranged B-Lymphoblastic Leukemia to B/Myeloid Mixed-Phenotype Acute Leukemia and Myeloid Sarcoma Causing Spinal Cord Compression. (PubMed, Case Rep Hematol)
    It highlights an unusual and serious pattern of relapse in an extramedullary site following blinatumomab therapy. Clinicians should remain vigilant for signs of lineage switch and extramedullary disease during treatment, particularly in patients with KMT2A-rearranged B-ALL, and consider imaging or biopsy when new neurologic or systemic symptoms arise.
    Journal
    |
    KMT2A (Lysine Methyltransferase 2A) • AFF1 (AF4/FMR2 Family Member 1)
    |
    KMT2A rearrangement
    |
    Blincyto (blinatumomab)
    4d
    Menin inhibitors as targeted therapy in KMT2A-Rearranged acute leukemia: A comprehensive review of current advances and therapeutic implications. (PubMed, Med Oncol)
    Among them, revumenib and ziftomenib have advanced furthest in clinical testing. Ongoing trials are now evaluating menin inhibitors in rational combinations, frontline regimens, and maintenance therapy. Collectively, these advances highlight menin inhibition as a transformative strategy in acute leukemia, reshaping therapy through precision-targeted epigenetic intervention.
    Review • Journal
    |
    NPM1 (Nucleophosmin 1) • KMT2A (Lysine Methyltransferase 2A) • HOXA9 (Homeobox A9) • MEIS1 (Meis Homeobox 1) • MEN1 (Menin 1)
    |
    NPM1 mutation • KMT2A rearrangement
    |
    Revuforj (revumenib) • Komzifti (ziftomenib)
    7d
    A phase 1/2 study of DS-1594 menin inhibitor in relapsed/refractory acute leukemias. (PubMed, J Hematol Oncol)
    Pharmacokinetic analysis showed DS-1594b reached maximum concentration approximately in 2 h with total exposure increasing with escalating doses and reached stead-state by Cycle 1 Day 8. DS-1594b showed limited efficacy at the doses tested but appeared safe with a lead-in dosing approach.
    P1/2 data • Journal
    |
    NPM1 (Nucleophosmin 1) • KMT2A (Lysine Methyltransferase 2A)
    |
    NPM1 mutation • KMT2A rearrangement
    |
    emilumenib succinate (DS-1594)
    9d
    Unveiling the Genetic Mosaic of Pediatric AML: Insights from Southwest China. (PubMed, Curr Oncol)
    This study delineated the genetic landscape of pAML in Southwest China and explored the prognostic value of gene fusions and mutations in early and long-term outcomes. These findings provide a foundation for understanding the genetic heterogeneity of pAML and offer evidence for the development of precision medicine approaches.
    Journal
    |
    KRAS (KRAS proto-oncogene GTPase) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • WT1 (WT1 Transcription Factor) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
    |
    FLT3-ITD mutation • KIT mutation • KMT2A rearrangement
    11d
    Cross-Species Morphology Learning Enables Nucleic Acid-Independent Detection of Live Mutant Blood Cells. (PubMed, bioRxiv)
    The platform holds promise for translation into pre-malignant screening applications in asymptomatic neonates and adults as well as measurable residual disease monitoring in malignancies. Furthermore, it provides a novel single-cell morphological data modality that complements existing molecular layers, including genomics, epigenomics, transcriptomics, and proteomics.
    Journal
    |
    KMT2A (Lysine Methyltransferase 2A)
    |
    KMT2A rearrangement • MLL mutation
    22d
    The Silent Revolution of the Genome: The Role of Optical Genome Mapping in Acute Lymphoblastic Leukemia. (PubMed, Cancers (Basel))
    Integrating OGM with next-generation sequencing (NGS) allows comprehensive genomic profiling, improving diagnosis, prognosis, and personalized treatment in ALL. Future advancements promise to further enhance the clinical utility of OGM.
    Review • Journal
    |
    KMT2A (Lysine Methyltransferase 2A) • IKZF1 (IKAROS Family Zinc Finger 1)
    |
    KMT2A rearrangement
    29d
    Novel agents for acute myeloid leukemia not yet approved in Japan (PubMed, Rinsho Ketsueki)
    This review focuses on menin inhibitors and covers IDH inhibitors, oral azacitidine, antibody-drug conjugates, bispecific antibodies, radioisotope therapies, and CAR-T cell therapies for AML. Menin inhibitors, which are particularly effective against AML with KMT2A rearrangements or NPM1 mutations, have shown promising results in clinical trials. These novel agents may expand treatment options and improve outcomes for AML patients.
    Review • Journal • IO biomarker
    |
    NPM1 (Nucleophosmin 1) • KMT2A (Lysine Methyltransferase 2A)
    |
    NPM1 mutation • KMT2A rearrangement
    |
    Onureg (azacitidine oral)
    30d
    KMT2A::NRIP3 Fusion Gene in the First Reported Case of B-Cell Acute Lymphoblastic Leukemia. (PubMed, J Pediatr Hematol Oncol)
    The rare KMT2A::NRIP3 fusion gene can be observed not only in pediatric AML patients, but also in B-ALL patients.
    Journal
    |
    MYC (V-myc avian myelocytomatosis viral oncogene homolog) • CCND1 (Cyclin D1) • KMT2A (Lysine Methyltransferase 2A)
    |
    KMT2A rearrangement
    1m
    Impact of KMT2A Rearrangement on Peripheral T-Cell Lymphoma, Not Otherwise Specified, and Angioimmunoblastic T-Cell Lymphoma. (PubMed, Biomedicines)
    Brentuximab vedotin (BV) plus cyclophosphamide, doxorubicin, and prednisone did not significantly improve OS or PFS overall; however, exploratory analysis indicated improved PFS in the KMT2A-r subset. KMT2A-r delineates an adverse-risk biology in nodal PTCL, aligns with non-TFH genomic hubs and markers of tumor burden, and may serve as a stratifier and hypothesis-generating target for BV-based strategies.
    Journal
    |
    KMT2A (Lysine Methyltransferase 2A) • RHOA (Ras homolog family member A)
    |
    KMT2A rearrangement • MLL mutation
    |
    doxorubicin hydrochloride • cyclophosphamide • Adcetris (brentuximab vedotin) • prednisone
    1m
    KMT2A alterations in acute myeloid leukemia: a proposed genetic risk model and transplantation outcomes. (PubMed, Exp Hematol Oncol)
    Allogeneic hematopoietic cell transplantation significantly improved survival, with 3-year OS rates of 75.2% in transplant recipients versus 22.5% in non-transplanted patients (P < 0.001), particularly in high-risk groups and when performed in first complete remission. These findings support the use of molecularly guided, risk-adapted therapy in KMT2A-altered AML.
    Journal
    |
    KMT2A (Lysine Methyltransferase 2A) • MLLT3 (MLLT3 Super Elongation Complex Subunit)
    |
    RAS mutation • KMT2A rearrangement • MLL mutation
    2ms
    Acute Leukemias of Ambiguous Lineage With RUNX1 Mutations Show Similar Prognosis Compared to Acute Myeloid Leukemia With RUNX1 Mutations: A Study From the Bone Marrow Pathology Group. (PubMed, Am J Hematol)
    Our results suggest ALAL-RUNX1 is associated with younger age, higher blasts, and more karyotypic abnormalities, but has similar clinical and genetic features and outcomes to AML-RUNX1. Our findings suggest, like other MR mutations, RUNX1-mutated ALALs should be included within AML-MR.
    Clinical • Journal
    |
    TP53 (Tumor protein P53) • ABL1 (ABL proto-oncogene 1) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • BCL11B (BAF Chromatin Remodeling Complex Subunit BCL11B) • ZNF384 (Zinc Finger Protein 384)
    |
    TP53 mutation • RUNX1 mutation • KMT2A rearrangement