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    GENE:

    RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)

    i
    Other names: RUNX1T1, RUNX1 Partner Transcriptional Co-Repressor 1, ZMYND2, MTG8, CDR, ETO, Core-Binding Factor Runt Domain Alpha Subunit 2; Translocated To 1; Cyclin D-Related, Runt Related Transcription Factor 1; Translocated To 1 (Cyclin D Related), Zinc Finger MYND Domain-Containing Protein, RUNX1 Translocation Partner, Eight Twenty One Protein, Protein CBFA2T1, CBFA2T1, AML1T1, Acute Myelogenous Leukemia 1 Translocation 1 Cyclin-D Related, Myeloid Translocation Gene On 8q22, Cyclin-D-Related Protein, Protein MTG8, Protein ETO, AML1-MTG8, RUNX1T1
    4d
    The RTK-RAS signaling pathway is enriched in patients with rare acute myeloid leukemia harboring t(16;21)(p11;q22)/FUS::ERG. (PubMed, Blood Sci)
    Transcriptome analysis revealed enrichment of the phosphatidylinositol-3-kinase-Akt (PI3K-Akt), mitogen-activated protein kinase (MAPK), and RAS signaling pathways and upregulation of BCL2, the target of venetoclax, in FUS::ERG AML compared to RUNX1::RUNX1T1 AML, a more common AML subtype with good prognosis...Allogeneic hematopoietic stem cell transplantation failed to improve outcomes. Overall, the high incidence of RTK-RAS pathway mutations and high expression of BCL2 may indicate promising therapeutic targets in this high-risk AML subset.
    Journal • IO biomarker
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    NRAS (Neuroblastoma RAS viral oncogene homolog) • BCL2 (B-cell CLL/lymphoma 2) • RUNX1 (RUNX Family Transcription Factor 1) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • NCAM1 (Neural cell adhesion molecule 1) • FUS (FUS RNA Binding Protein)
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    KRAS mutation • RAS mutation • BCL2 overexpression • BCL2 expression • NCAM1 positive
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    Venclexta (venetoclax)
    9d
    Integration of measurable residual disease by WT1 gene expression and flow cytometry identifies pediatric patients with high risk of relapse in acute myeloid leukemia. (PubMed, Front Oncol)
    WT1MRD response post-intensification I serves as an independent prognostic factor for survival in pediatric AML. Integration of WT1 and MFC-based MRD results enhances the reliability of MRD-based prognostic stratification, particularly in patients lacking specific leukemic markers, thereby influencing treatment strategies.
    Journal
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    RUNX1 (RUNX Family Transcription Factor 1) • WT1 (WT1 Transcription Factor) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
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    WT1 overexpression
    12d
    Role of Interphase FISH Assay on Air-Dried Smears in Identifying Specific Structural Chromosomal Abnormalities among Pediatric Patients with Acute Leukemias. (PubMed, Indian J Hematol Blood Transfus)
    It can be considered an efficient alternative to conventional karyotyping for  identifying specific SCA of interest in under-resourced laboratories. The online version contains supplementary material available at 10.1007/s12288-023-01699-2.
    Journal
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    ABL1 (ABL proto-oncogene 1) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • ETV6 (ETS Variant Transcription Factor 6) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • TCF3 (Transcription Factor 3) • PBX1 (PBX Homeobox 1)
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    KMT2A rearrangement • MLL rearrangement
    24d
    Lower relapse incidence with haploidentical versus matched sibling or unrelated donor hematopoietic cell transplantation for core-binding factor AML patients in CR2: A study from the Global Committee and the Acute Leukemia Working Party of the European Society for Blood and Marrow Transplantation. (PubMed, Am J Hematol)
    There was no difference on LFS, OS or GRFS. CBF AML patients with inv(16) had a better progonosis than those with t(8;21) after allo-HCT in CR2.
    Journal
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    RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
    1m
    Veno-venous extracorporeal membrane oxygenation for capillary leak syndrome during induction chemotherapy in acute myeloid leukemia (PubMed, Rinsho Ketsueki)
    A 44-year-old woman was diagnosed with acute myeloid leukemia (RUNX1::RUNX1T1 translocation) and received induction chemotherapy with idarubicin hydrochloride and cytosine arabinoside. The patient received consolidation chemotherapy, and has maintained complete remission. Severe respiratory failure during induction chemotherapy for acute leukemia can be fatal, but VV-ECMO may be lifesaving.
    Journal
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    RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
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    cytarabine • idarubicin hydrochloride
    2ms
    Differential prognostic values of the three AKT isoforms in acute myeloid leukemia. (PubMed, Sci Rep)
    Curiously, although modestly varying among AML samples, a high AKT1 expression shows in contrast as a strong predictor of a better patient outcome. These data suggest that AKT3 and AKT1 expressions have strong, yet opposite, prognostic values.
    Journal
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    NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • SRSF2 (Serine and arginine rich splicing factor 2) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • AKT2 (V-akt murine thymoma viral oncogene homolog 2) • AKT3 (V-akt murine thymoma viral oncogene homolog 3)
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    NPM1 mutation • RUNX1 mutation • ASXL1 mutation • SF3B1 mutation • SRSF2 mutation • U2AF1 mutation • BCOR mutation • AKT2 expression • AKT3 expression
    2ms
    Genetic alterations in myeloid sarcoma among acute myeloid leukemia patients: insights from 37 cohort studies and a meta-analysis. (PubMed, Front Oncol)
    This meta-analysis sheds light on the prevalence of genetic mutations in AML patients with MS, providing insights into the unique characteristics of the mutations and their frequencies. These discoveries are crucial in informing therapeutic and prognostic decisions for individuals with myeloid sarcoma.
    Retrospective data • Review
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    FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • 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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    NRAS mutation • FLT3-ITD mutation • IDH2 mutation • CEBPA mutation
    2ms
    A Novel Four-way Translocation Variant t(8;14;15;21)(q22;q22;q15;q22.1) in Acute Myeloid leukemia with RUNX1::RUNX1T1. (PubMed, Turk J Haematol)
    No abstract available
    Journal
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    RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
    2ms
    Usefulness of KIT mutant transcript levels for monitoring measurable residual disease in t (8;21) acute myeloid leukemia. (PubMed, Hematol Oncol)
    After Course 2 consolidation, the KIT_H patients with >3-log reduction in the RUNX1::RUNX1T1 transcript levels (11/45; 24.4%) had similar RFS as that of patients with <3-log reduction in the RUNX1::RUNX1T1 transcript levels. The combination of KITmut and RUNX1::RUNX1T1 transcript levels after Course 2 consolidation may improve risk stratification in t (8; 21) AML patient with KIT mutation.
    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 • KIT N822K • KIT D816V
    2ms
    Investigating the mechanisms underlying resistance to chemoterapy and to CRISPR-Cas9 in cancer cell lines. (PubMed, Sci Rep)
    However, some of these genes have a common role: APBB2, RUNX1T1, ZBTB7C, and ISX regulate transcription, while APBB2, BTG3, ZBTB7C, SZRD1 and LEF1 have a function in regulating proliferation, suggesting a role for these two pathways. While our results are specific for the lung cancer cell lines we selected for this work, our method of analysis can be applied to cell lines from other tissues and for which the required data is available.
    Preclinical • Journal
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    RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • UHMK1 (U2AF Homology Motif Kinase 1) • USP9X (Ubiquitin Specific Peptidase 9 X-Linked)
    2ms
    Functional characterization of cooperating MGA mutations in RUNX1::RUNX1T1 acute myeloid leukemia. (PubMed, Leukemia)
    RUNX1::RUNX1T1 expression in Mga-deficient murine hematopoietic cells leads to a more aggressive AML with a significantly shortened latency. These data show that MGA regulates multiple pro-proliferative pathways in hematopoietic cells and cooperates with the RUNX1::RUNX1T1 fusion oncoprotein to enhance leukemogenesis.
    Journal
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    MYC (V-myc avian myelocytomatosis viral oncogene homolog) • RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • MGA (MAX Dimerization Protein MGA)
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    RUNX1 mutation • RUNX1-RUNX1T1 fusion • MGA mutation
    3ms
    Comparing Cytarabine + Daunorubicin Therapy Versus Cytarabine + Daunorubicin + Venetoclax Versus Venetoclax + Azacitidine in Younger Patients With Intermediate Risk AML (A MyeloMATCH Treatment Trial) (clinicaltrials.gov)
    P2, N=153, Not yet recruiting, National Cancer Institute (NCI) | Trial completion date: Dec 2023 --> Dec 2025 | Trial primary completion date: Dec 2023 --> Dec 2025
    Trial completion date • Trial primary completion date
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    TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • RARA (Retinoic Acid Receptor Alpha) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • PML (Promyelocytic Leukemia) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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    TP53 mutation • FLT3-ITD mutation • NPM1 mutation • RUNX1 mutation • ASXL1 mutation • FLT3-TKD mutation • CEBPA mutation
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    Venclexta (venetoclax) • cytarabine • azacitidine • daunorubicin • Starasid (cytarabine ocfosfate)
    3ms
    Targeting Molecular Measurable Residual Disease and Low-Blast Relapse in AML With Venetoclax and Low-Dose Cytarabine: A Prospective Phase II Study (VALDAC). (PubMed, J Clin Oncol)
    For AML in first remission and either MRD or oligoblastic relapse, venetoclax plus LDAC is well tolerated and highly effective.
    P2 data • Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • MLLT3 (MLLT3 Super Elongation Complex Subunit)
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    NPM1 mutation
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    Venclexta (venetoclax) • cytarabine
    3ms
    Dysregulation of the Skin-Liver Axis in Prurigo Nodularis: An Integrated Genomic, Transcriptomic, and Population-Based Analysis. (PubMed, Genes (Basel))
    A subsequent genome-wide association study (GWAS) identified shared single-nucleotide polymorphisms (SNPs) in the genes AR, EDIL3, MACROD2, PCSK5, RUNX1T1, TENM4, and ZEB2 between PN and liver disease from the FinnGen cohort. Significant dysregulation of the skin-liver axis in PN patients may explain the increased incidence and severity of hepatic comorbidities and help identify future therapeutic targets for PN.
    Journal
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    RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • TENM4 (Teneurin Transmembrane Protein 4) • ZEB2 (Zinc Finger E-Box Binding Homeobox 2) • EDIL3 (EGF Like Repeats And Discoidin Domains 3)
    3ms
    Randomized Phase III Study of Intensive Chemotherapy With or Without Dasatinib (Sprycel™) (clinicaltrials.gov)
    P3, N=204, Completed, University of Ulm | Active, not recruiting --> Completed
    Trial completion
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    RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
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    RUNX1-RUNX1T1 fusion • CBFB-MYH11 fusion
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    dasatinib • daunorubicin • idarubicin hydrochloride
    4ms
    RETRO-CBF: Multicenter Retrospective Observatory of Patients With Acute Myeloid Leukemia to Core Binding Factor (clinicaltrials.gov)
    P=N/A, N=400, Completed, Acute Leukemia French Association | Recruiting --> Completed
    Trial completion
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    RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
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    RUNX1-RUNX1T1 fusion • CBFB-MYH11 fusion
    4ms
    ALLG AMLM28/STOP: Achieving Durable remissions via Adaptive Pro-survival Targeting in Acute Myeloid Leukaemia (AML) (ADAPT): The ADAPT Platform trial - STOP Domain (ACTRN12624000065594)
    P=N/A, N=100, Not yet recruiting, Australasian Leukaemia and Lymphoma Group (ALLG)
    New trial
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    NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
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    Venclexta (venetoclax) • azacitidine
    4ms
    CNS erythroblastic sarcoma: a potential emerging pediatric tumor type characterized by NFIA::RUNX1T1/3 fusions. (PubMed, Acta Neuropathol Commun)
    To conclude, pediatric ES with NFIA::RUNX1T1/3 fusions seem to have a tropism for the CNS and thus constitute a potential pitfall for neuropathologists. Due to the absence of circulating blasts and a DNA-methylation signature, the diagnosis must currently be made by highlighting the translocation and expression of erythroid markers.
    Journal
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    KIT (KIT proto-oncogene, receptor tyrosine kinase) • CDH1 (Cadherin 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • PTPRC (Protein Tyrosine Phosphatase Receptor Type C) • CBFA2T3 (CBFA2/RUNX1 Partner Transcriptional Co-Repressor 3) • CD99 (CD99 Molecule) • SPN (Sialophorin)
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    CDH1 expression • PTPRC expression
    4ms
    Mixed-phenotype acute leukemia, T/megakaryoblastic: does it really exist? (PubMed, J Hematop)
    Additionally, the reported cases highlight the limitations of existing classifications which do not address rare subtypes. More importantly, T/megakaryoblastic MPAL needs to be included in the WHO classification as a separate entity.
    Journal
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    ABL1 (ABL proto-oncogene 1) • RUNX1 (RUNX Family Transcription Factor 1) • ETV6 (ETS Variant Transcription Factor 6) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
    5ms
    A multi-center retrospective comparison between systemic mastocytosis with t(8;21) AML and KIT mutant t(8;21) AML. (PubMed, Blood Adv)
    For all patients in our cohort, age > 60 years, KITD816 mutations and BCOR mutations were showed to be independent unfavorable predictors for OS and EFS. Our results revealed that SM-t(8;21) AML shared more similar clinical characteristics, molecular features and clinical outcomes with KITD816 t(8;21) AML.
    Retrospective data • Journal
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    KIT (KIT proto-oncogene, receptor tyrosine kinase) • DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • BCOR (BCL6 Corepressor)
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    KIT mutation • BCOR mutation • KIT D816V • KIT exon 17 mutation
    5ms
    The study of clinical characteristics and prognosis of RUNX1-RUNX1T1 positive acute myeloid leukemia based on next-generation sequencing (PubMed, Zhonghua Xue Ye Xue Za Zhi)
    No abstract available
    Journal • Next-generation sequencing
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    RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
    5ms
    Proteogenomic analysis reveals cytoplasmic sequestration of RUNX1 by the acute myeloid leukemia-initiating CBFB::MYH11 oncofusion protein. (PubMed, J Clin Invest)
    Paradoxically, CBFB::MYH11 expression was associated with increased RUNX1/2 expression, suggesting the presence of a sensor for reduced functional RUNX1 protein, and a feedback loop that that may attempt to compensate by increasing RUNX1/2 transcription. These findings may have broad implications for AML pathogenesis.
    Journal
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    RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
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    CBFB-MYH11 fusion
    6ms
    A Comprehensive Genomic Profiling of Myeloid Malignancies Demonstrates Mutational Spectrum of DNA Variants Including FLT3-ITDs, and Gene Fusions (ASH 2023)
    "Not for use in diagnostic procedures. )"
    TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • ABL1 (ABL proto-oncogene 1) • NRAS (Neuroblastoma RAS viral oncogene homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • FGFR1 (Fibroblast growth factor receptor 1) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2A (Lysine Methyltransferase 2A) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • CREBBP (CREB binding protein) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • BCOR (BCL6 Corepressor) • PML (Promyelocytic Leukemia) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • CALR (Calreticulin) • KAT6A (Lysine Acetyltransferase 6A) • MLLT3 (MLLT3 Super Elongation Complex Subunit) • ANKRD26 (Ankyrin Repeat Domain Containing 26)
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    FLT3-ITD mutation • TET2 mutation • FGFR1 fusion
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    Oncomine Myeloid Assay GX • Oncomine Myeloid Research Assay
    6ms
    Analysis of Safety and Efficacy of Avapritinib As Targeted Therapy for Pediatric Acute Myeloid Leukemia Patients with KIT Mutation after Transplantation (ASH 2023)
    2 patients did not achieve continuous RUNX1: : RUNX1T1 negative after preemptive therapy with Decitabine (DAC) and donor lymph infusion (DLI), and then was treated with Avapritinib, one's RUNX1: : RUNX1T1 fusion achieved continuously negative after 1 month treatment of Avapritinib, the other's achieved continuous negative after 7 months treatment of Avapritinib. Avapritinib is safe and effective in the prophylactic and preemptive treatment of AML with KIT mutation after allo-HSCT in children, which provides a clinical drug for the prevention of relapse after transplantation.
    Clinical
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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 • RUNX1 mutation • KIT N822K • KIT exon 17 mutation • RUNX1-RUNX1T1 fusion • KIT fusion
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    decitabine • Ayvakit (avapritinib)
    6ms
    Elucidating Single-Cell Transcriptional Differences of the MLL Subtype in Pediatric Acute Myeloid Leukemia Using Machine Learning and Gene Regulatory Analysis (ASH 2023)
    This study evaluated the differences between the MLL, RUNX1, and inv(16) AML subtypes at the single-cell level, discovered gene signatures that effectively discriminate between the three subtypes as well as other AML and healthy samples, and revealed that the poorer prognosis of the MLL subtype may be attributable to dysregulation of CD8+ T-cell proliferation caused by abnormalities in the SPI-B TF and the LCK signaling pathway.
    Clinical • Machine learning
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    CD8 (cluster of differentiation 8) • RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • CAV1 (Caveolin 1) • HOXA9 (Homeobox A9) • SOCS2 (Suppressor Of Cytokine Signaling 2)
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    MLL rearrangement • 7-gene signature • RUNX1 overexpression
    6ms
    Multiparametric Flow Cytometry-MRD Assay: Lesson from Phase II Trail REL AML 001 (ASH 2023)
    In the Phase II Trial REL AML 001 (EudraCT Number 2017-002094-18; ClinicalTrials ID: NCT 03686345) adult CBF leukemia patients treated with a continuation therapy with Midostaurin were included, and the measurable residual disease (MRD) was performed by molecular MRD assessment (qPCR) and multiparametric flow cytometric-MRD (MCF-MRD) assay... Although MCF-MRD assay showed lower sensitivity than CBF qPCR, MCF offered interesting informations about the dynamics of the abnormal clone size with time, evaluated as the increasing number of MRD clustering events, which may predict an impending relapse.
    P2 data
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    KIT (KIT proto-oncogene, receptor tyrosine kinase) • RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • CD33 (CD33 Molecule) • CD34 (CD34 molecule) • PTPRC (Protein Tyrosine Phosphatase Receptor Type C) • NCAM1 (Neural cell adhesion molecule 1) • CD14 (CD14 Molecule) • CD200 (CD200 Molecule) • CD7 (CD7 Molecule) • CD2 (CD2 Molecule) • ANPEP (Alanyl Aminopeptidase, Membrane)
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    CBFB-MYH11 fusion
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    Rydapt (midostaurin)
    6ms
    Genomic Analyses Unveil the Pathogenesis and Inform on Therapeutic Targeting in KMT2A-PTD AML (ASH 2023)
    Given the results obtained with menin inhibitors in KMT2A-rearranged and NPM1-mutated AML, our findings open an opportunity for exploiting a therapeutic vulnerability in all HOX-AML including KMT2A-PTD AML or AML with high MEN1 expression. Since HOX-AML highly express genes according to the HOX differentiation profile, stage-specific surface proteins coded by these genes would be promising targets.
    Genomic analysis
    |
    FLT3 (Fms-related tyrosine kinase 3) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2A (Lysine Methyltransferase 2A) • TET2 (Tet Methylcytosine Dioxygenase 2) • CD276 (CD276 Molecule) • SRSF2 (Serine and arginine rich splicing factor 2) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • PML (Promyelocytic Leukemia) • CD34 (CD34 molecule) • STAG2 (Stromal Antigen 2) • CD14 (CD14 Molecule) • LILRB4 (Leukocyte Immunoglobulin Like Receptor B4) • MEN1 (Menin 1) • CD1D (CD1d Molecule) • CD86 (CD86 Molecule) • HOXB2 (Homeobox B2) • NKX2-3 (NK2 Homeobox 3)
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    NPM1 mutation • TET2 mutation • KMT2A rearrangement • MLL rearrangement • SRSF2 mutation • U2AF1 mutation • STAG2 mutation • MLL mutation • MLL translocation • KMT2A expression • KMT2A-PTD • CD1D expression
    6ms
    Identification of Epigenetic Modifiers Essential for Growth and Survival of AML1/ETO-Positive Leukemia (ASH 2023)
    Materials and methodsIn the customized shRNA library screen, 2009 shRNAs developed to target 671 genes were pool-cloned into a retroviral vector allowing doxycycline-inducible expression to generate a plasmid shRNA library (Antonova et al...We validated, genetically and pharmacologically, DNMT1 and ATR using several AML1/ETO-positive (SKNO-1, Kasumi-1) and AML1/ETO-negative cell lines (OCI-AML3, HL60) with median IC50 for decitabine 74 nM (range 44-219), azacytidine 146 nM (range 14-267), berzosertib 219 nM (range 16-460) and ceralasertib 85 nM (range 42-328)...Some of these epigenetic regulators, such as DNMT1 and ATR, are susceptible to pharmacological inhibition by small molecules showing promising preclinical and clinical efficacy, and confirmation studies (Baeten et al. , ASH meeting 2022) appear warranted.
    PARP Biomarker
    |
    RUNX1 (RUNX Family Transcription Factor 1) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • BRD4 (Bromodomain Containing 4) • KMT5A (Lysine Methyltransferase 5A) • PARP2 (Poly(ADP-Ribose) Polymerase 2) • SETD1A (SET Domain Containing 1A) • SMYD2 (SET And MYND Domain Containing 2)
    |
    azacitidine • decitabine • berzosertib (M6620) • ceralasertib (AZD6738)
    6ms
    Venetoclax plus hypomethylating agents in newly diagnosed acute myeloid leukemia patients with RUNX1::RUNX1T1: a retrospective propensity score matching study. (PubMed, Blood Cancer J)
    No abstract available
    Retrospective data • Journal
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    RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
    |
    Venclexta (venetoclax)
    6ms
    Combination of eriocalyxin B and homoharringtonine exerts synergistic anti-tumor effects against t(8;21) AML. (PubMed, Acta Pharmacol Sin)
    The synergistic effects of the two drugs were also observed in bone marrow mononuclear cells (BMMCs) of t(8;21) AML patients. Collectively, this study reveals the synergistic mechanism of the combination regimen of EriB and HHT in t(8;21) AML, providing new insight into optimizing targeted treatment of AML.
    Journal
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    RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • CASP3 (Caspase 3)
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    KIT mutation
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    Synribo (omacetaxine mepesuccinate)
    6ms
    KIT exon 17 mutations are predictive of inferior outcome in pediatric acute myeloid leukemia with RUNX1::RUNX1T1. (PubMed, Pediatr Blood Cancer)
    Exon 17 KIT mutations serve as an important predictor of relapse in RUNX1::RUNX1T1 pediatric AML. In addition, a high KIT VAF may predict poor outcomes in these patients. These results emphasize the need to incorporate KIT mutational analysis into risk stratification for pediatric CBF-AML.
    Journal
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    RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
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    KIT mutation • KIT exon 17 mutation • CBFB-MYH11 fusion
    6ms
    Single-cell RNA-seq reveals novel immune-associated biomarkers for predicting prognosis in AML patients with RUNX1::RUNX1T1. (PubMed, Int Immunopharmacol)
    AML cohorts from two other independent studies, TCGA LAML (n = 145) and the GEO dataset (n = 104), also demonstrated an inferior outcome for AML patients with high AHCY expression. In conclusion, our research revealed that AHCY might function as a novel indicator to predict the prognosis and efficiency of T-cell proliferation and activation in AML patients with RUNX1::RUNX1T1.
    Journal
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    CD8 (cluster of differentiation 8) • RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • CD4 (CD4 Molecule)
    6ms
    A scoring system based on fusion genes to predict treatment outcomes of the non-acute promyelocytic leukemia pediatric acute myeloid leukemia. (PubMed, Front Med (Lausanne))
    Our model based on the fusion gene is a prognostic biomarker for non-APL pediatric patients with AML. The nomogram score can provide personalized prognosis prediction, thereby benefiting clinical decision-making.
    Journal
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    RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • CBFB (Core-Binding Factor Subunit Beta 2) • MLLT10 (MLLT10 Histone Lysine Methyltransferase DOT1L Cofactor)
    6ms
    Automated Deep Learning-Based Diagnosis and Molecular Characterization of Acute Myeloid Leukemia using Flow Cytometry. (PubMed, Mod Pathol)
    Finally, we demonstrate how these models generate interpretable insights into which individual flow cytometric events and markers deliver optimal diagnostic utility, providing hematopathologists with a data visualization tool for improved data interpretation, as well as novel biological associations between flow cytometric marker expression and cytogenetic/molecular variants in AML. Our study is the first to illustrate the feasibility of using deep learning-based analysis of flow cytometric data for automated AML diagnosis and molecular characterization.
    Journal
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    NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
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    Chr t(15;17)
    7ms
    Independent Prognostic Value of DNA-Based Minimal Residual Disease Assessment in Unselected Population-Based Cohort of Pediatric Acute Myeloid Leukemia (ASH 2023)
    Supported by National Institute of Cancer Research No. LX22NPO5102 funded by the European Union–Next Generation EU, and AZV grant NU20-07-00322.
    Clinical • IO biomarker • Minimal residual disease
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    ABL1 (ABL proto-oncogene 1) • NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • ETV6 (ETS Variant Transcription Factor 6) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • CREBBP (CREB binding protein) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1) • NUP214 (Nucleoporin 214) • FUS (FUS RNA Binding Protein) • CBFA2T3 (CBFA2/RUNX1 Partner Transcriptional Co-Repressor 3) • GATA1 (GATA Binding Protein 1) • GLIS2 (GLIS Family Zinc Finger 2) • KAT6A (Lysine Acetyltransferase 6A) • ZEB2 (Zinc Finger E-Box Binding Homeobox 2) • MLLT10 (MLLT10 Histone Lysine Methyltransferase DOT1L Cofactor) • ZFP36 (ZFP36 Ring Finger Protein) • HOXA10 (Homeobox A10)
    |
    NPM1 mutation • CEBPA mutation
    7ms
    Identification of a Relapse Signature in t(8; 21) Pediatric AML (ASH 2023)
    By applying differential expression analysis, K-means clustering and machine learning to RNAseq data from a cohort of 149 pediatric AML patients we successfully identified a relapse-signature using a panel of 16 genes evident at the time of diagnosis and prognostic of patient outcomes. Future efforts will focus on increasing the sensitivity of our model to relapse prediction and further validation on other pediatric t(8; 21) cohorts.
    Clinical
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    RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • CSF1 (Colony stimulating factor 1) • CCL3 (C-C Motif Chemokine Ligand 3) • RARG (Retinoic Acid Receptor Gamma) • SATB1 (SATB Homeobox 1) • ZNF501 (Zinc Finger Protein 501)
    7ms
    Association of Latino Ethnicity with Cytogenetic Subtypes in Pediatric Acute Myeloid Leukemia (ASH 2023)
    Our findings suggest Latino children are more likely to have a favorable cytogenetic subtype than NLW children, which suggests disparities in outcomes are not primarily due to underlying differences in prognostic subtypes. Additional analyses of pediatric AML as it relates to cytogenetic subtypes and race/ethnicity is ongoing, including the incorporation of disease response and treatment outcomes, to understand how these factors may impact disparities in outcomes.
    Clinical
    |
    FLT3 (Fms-related tyrosine kinase 3) • ABL1 (ABL proto-oncogene 1) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • CBFB (Core-Binding Factor Subunit Beta 2) • RBM15 (RNA Binding Motif Protein 15)
    |
    FLT3 mutation • KMT2A rearrangement • MLL rearrangement • CEBPA mutation
    7ms
    Induction of Cellular and Humoral Immune Responses Is Associated with Durable Remissions in MRD+ AML-Patients after Maintenance Treatment with an Allogeneic Leukemia-Derived Dendritic Cell Vaccine (ASH 2023)
    The locally skin induced immune response leading to influx of a plethora of immune cells, confirmed the mode of action of immune priming through intradermal administration of the cancer vaccine. These results warrant further studies combining vididencel with SOC such as hypomethylating agents in AML maintenance.
    Clinical • IO biomarker
    |
    TP53 (Tumor protein P53) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • CD8 (cluster of differentiation 8) • RUNX1 (RUNX Family Transcription Factor 1) • IFNG (Interferon, gamma) • WT1 (WT1 Transcription Factor) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • CD4 (CD4 Molecule) • PRAME (Preferentially Expressed Antigen In Melanoma) • CDK1 (Cyclin-dependent kinase 1)
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    TP53 mutation • NPM1 mutation
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    vididencel (DCP-001)