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    GENE:

    RUNX1 (RUNX Family Transcription Factor 1)

    i
    Other names: RUNX1, RUNX Family Transcription Factor 1, Runt-Related Transcription Factor 1, Polyomavirus Enhancer-Binding Protein 2 Alpha B Subunit, SL3/AKV Core-Binding Factor Alpha B Subunit, SL3-3 Enhancer Factor 1 Alpha B Subunit, Runt Related Transcription Factor 1, Acute Myeloid Leukemia 1 Protein, Oncogene AML-1, PEBP2-Alpha B, PEA2-Alpha B, AMLCR1, CBFA2, AML1, Core-Binding Factor Subunit Alpha-2, AML1-EVI-1 Fusion Protein, Acute Myeloid Leukemia 1, Aml1 Oncogene, CBF-Alpha-2, AML1-EVI-1, PEBP2alpha, CBF2alpha, PEBP2aB, PEBP2A2, EVI-1, RUNX1
    1d
    Genomic characterisation of Chinese myeloid malignancies and its clinical correlates: insights from targeted next-generation sequencing. (PubMed, Front Med (Lausanne))
    These findings demonstrated associations between genetic alterations and clinical features, disease progression, and prognosis in Chinese patients with myeloid malignancies. However, the prognostic associations should be interpreted cautiously, as none of the evaluated variables remained independent prognostic factors in multivariate models.
    Journal • Next-generation sequencing
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    TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • KMT2C (Lysine Methyltransferase 2C) • SRSF2 (Serine and arginine rich splicing factor 2) • WT1 (WT1 Transcription Factor) • FAT1 (FAT atypical cadherin 1) • IL7R (Interleukin 7 Receptor) • SETBP1 (SET Binding Protein 1)
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    TP53 mutation • NPM1 mutation • ASXL1 mutation • SRSF2 mutation
    1d
    Reactivation of a TAL1 progenitor cell enhancer region by non-coding somatic variants in T-lineage acute lymphoblastic leukemia. (PubMed, bioRxiv)
    Interestingly, neither the isoform expression nor the enhancer activity could be predicted by the sequence-to-function deep learning artificial intelligence (AI) model AlphaGenome, emphasizing the importance of experimental validation. Our findings indicate that selection for cis -regulatory, non-coding variants leads to reactivation of enhancers normally active in HSC but silenced in differentiated lineages during normal hematopoietic cell development.
    Journal
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    RUNX1 (RUNX Family Transcription Factor 1) • GATA3 (GATA binding protein 3)
    1d
    Rewiring the Leukemic Genome: 3D Chromatin Architecture in B-cell Acute Lymphoblastic Leukemia. (PubMed, Blood Cancer Discov)
    Through multi-omic studies, Ghebrechristos and colleagues revealed that transcription factors, including ERG in ETV6::RUNX1 leukemia, remodel chromatin interactions to sustain oncogenic gene expression programs, identifying genome architecture as both a driver of leukemogenesis and a potential therapeutic vulnerability. See related article by Ghebrechristos et al., p. XX .
    Journal
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    RUNX1 (RUNX Family Transcription Factor 1) • ETV6 (ETS Variant Transcription Factor 6)
    2d
    Disrupting the CBFβ-SMMHC-RUNX1 oncogenic protein-protein interaction in inv(16) AML: from fusion biology to targeted therapy. (PubMed, Discov Oncol)
    Importantly, combining CBFβ-SMMHC inhibitors with BET bromodomain inhibitors synergistically eradicates inv(16) leukemia in preclinical models. Together, these insights into the structural basis and functional role of the CBFβ-SMMHC-RUNX1 interface highlight protein-protein interaction disruption as a promising translational strategy in core-binding factor leukemia therapy.
    Review • Journal
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    RUNX1 (RUNX Family Transcription Factor 1) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • CBFB (Core-Binding Factor Subunit Beta 2)
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    CBFB-MYH11 fusion
    2d
    Immunophenotypic, Genetic, and Clinical Features Associated With RUNX1 Mutation in Acute Leukemias and Chronic Myeloid Neoplasms. (PubMed, Int J Lab Hematol)
    In our cohort, we observed missense variants clustering in the RHD and recurrence of common pathogenic variants. Higher-risk comutations were found in a substantial fraction of mRUNX1 cases which may contribute to its adverse risk associations. Comparable degrees of aberrancy in B-lineage markers were seen in mRUNX1 patients versus the comparator cohorts of MPAL-wtRUNX1 and AML with rearranged RUNX1.
    Journal
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    RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • CD79A (CD79a Molecule) • MME (Membrane Metalloendopeptidase)
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    RUNX1 mutation
    2d
    Optical Genome Mapping Reveals Frequent Cryptic Structural Aberrations in Normal Karyotype Acute Myeloid Leukemia. (PubMed, Int J Cancer)
    Overall, this study demonstrates that a significant proportion of CN-AML cases harbor clinically relevant SVs, especially those associated with adverse prognosis, that escape detection by standard techniques. Our results support the use of OGM as a streamlined, genome-wide tool for both research and diagnostic applications in AML.
    Journal
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    FLT3 (Fms-related tyrosine kinase 3) • NF1 (Neurofibromin 1) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • TET2 (Tet Methylcytosine Dioxygenase 2) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1) • FOXP1 (Forkhead Box P1) • PRPF8 (Pre-MRNA Processing Factor 8)
    4d
    Haplo-Cord HSCT for AML/MDS (clinicaltrials.gov)
    P=N/A, N=180, Recruiting, Fujian Medical University Union Hospital
    New trial
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    KIT (KIT proto-oncogene, receptor tyrosine kinase) • NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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    NPM1 mutation • KIT mutation
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    cytarabine • cyclophosphamide • melphalan • fludarabine IV • busulfan
    7d
    Valosin-Containing Protein Contributes to Plexiform Neurofibroma Formation and Represents a Novel Therapeutic Target. (PubMed, Cells)
    In vivo treatment with CB-5083 in Nf1fl/fl;DhhCre PNF mice significantly inhibited cell proliferation, increased cell apoptosis and reduced PNF volume. The combination with a MEK inhibitor did not increase efficacy compared to the single agent, supporting the hypothesis that VCP functions in parallel to, and may be modulated by, RAS-MAPK signaling under stress or oncogenic conditions. The significant effects of VCP inhibition in this pre-clinical study suggest a potential novel therapy for patients with PNFs.
    Journal
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    NF1 (Neurofibromin 1) • RUNX1 (RUNX Family Transcription Factor 1) • VCP (Valosin Containing Protein)
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    Gomekli (mirdametinib) • CB-5083
    9d
    Long-term (74-month) efficacy and safety of ivosidenib and azacitidine in an elderly patient with mutated IDH1 acute myeloid leukemia: insights from a case report. (PubMed, Postgrad Med)
    The exceptional 74-month long response of this patient demonstrates that a long-term response is possible for a patient unfit for IC with mIDH1 AML treated with ivosidenib and azacitidine. Further insights into the impact of the mutational status of patients and/or the clonal hierarchy are warranted.
    Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1)
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    IDH1 mutation • RUNX1 mutation
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    azacitidine • Tibsovo (ivosidenib)
    11d
    Myeloid neoplasms with mutated KIT: comparative clinicopathologic analysis of D816 vs. non-D816 variants. (PubMed, Cancer Genet)
    Our findings suggest that non-D816 KIT mutations are associated with a less aggressive clinical phenotype, lower mast-cell differentiation, and improved outcomes. These results support a biologically distinct role of non-D816 KIT variants in MNs and highlight the need for refined risk stratification incorporating KIT variant classes.
    Journal
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    KIT (KIT proto-oncogene, receptor tyrosine kinase) • RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
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    KIT mutation
    13d
    Runx1 and Runx2 act in concert to suppress Wnt/β-catenin-driven mammary tumourigenesis. (PubMed, Br J Cancer)
    Runx1 restricts some forms of breast cancer and inhibits the full oncogenic potential of aberrant WNT signalling. Combined Runx1 and Runx2 loss dramatically accelerates disease progression suggesting that Runx2 can substitute for Runx1 in dampening the oncogenic effects of WNT signalling.
    Journal
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    RUNX1 (RUNX Family Transcription Factor 1) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • CBFB (Core-Binding Factor Subunit Beta 2) • RUNX2 (RUNX Family Transcription Factor 2)