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    BIOMARKER:

    CEBPA mutation

    i
    Other names: CEBPA, CCAAT Enhancer Binding Protein Alpha, CCAAT/Enhancer Binding Protein (C/EBP), Alpha, CCAAT/Enhancer-Binding Protein Alpha, CEBP, CCAAT/Enhancer Binding Protein Alpha, C/EBP-Alpha, C/EBP Alpha
    Entrez ID:
    1050
    11ms
    NCI-2018-03465: Azacitidine, Venetoclax, and Pevonedistat in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia (clinicaltrials.gov)
    P1/2, N=40, Active, not recruiting, M.D. Anderson Cancer Center | Trial completion date: Jan 2025 --> Jan 2027 | Trial primary completion date: Jan 2025 --> Jan 2027
    Trial completion date • Trial primary completion date
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    ABL1 (ABL proto-oncogene 1) • BCR (BCR Activator Of RhoGEF And GTPase) • NPM1 (Nucleophosmin 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
    |
    NPM1 mutation • CEBPA mutation • PDGFRA rearrangement
    |
    Venclexta (venetoclax) • azacitidine • pevonedistat (MLN4924)
    11ms
    Genetic Mutation Profile and Risk Stratification of Cytogenetically Normal Acute Myeloid Leukemia with CEBPA-bZIP Mutations Based on Multi-Gene Sequencing (PubMed, Zhongguo Shi Yan Xue Ye Xue Za Zhi)
    Adult CN-AML with CEBPA-bZIP mutation has a complex co-mutation pattern. The nomogram model based on mutations of CFS3R, KMT2A and DNA methylation-related genes together with WBC count can further divide this subset of patients into a relatively low-risk group and a relatively high-risk group. For individuals in the high-risk group, allo-HSCT is proposed as post-remission therapy. The above data will benefit the prognosis estimation and treatment decision for adult CN-AML with CEBPA-bZIP mutation.
    Journal
    |
    KMT2A (Lysine Methyltransferase 2A) • CSF3R (Colony Stimulating Factor 3 Receptor) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
    |
    CEBPA mutation • KMT2A mutation • MLL mutation • CSF3R mutation
    12ms
    Comprehensive Genomic Profiling (CGP) of Acute Myeloid Leukemias with Foundation One Heme Identifies Actionable Genomic Alterations and Biomarkers (ASH 2024)
    Current best practices for the diagnosis, classification, prognostication, and treatment of AML call for the assessment of the presence and absence of numerous genomic alterations. Therefore, in contrast to single-gene or small-panel molecular testing, the F1H platform can simplify such assessment via a CGP approach.
    IO biomarker
    |
    TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • ABL1 (ABL proto-oncogene 1) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • BCL2 (B-cell CLL/lymphoma 2) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2A (Lysine Methyltransferase 2A) • SRSF2 (Serine and arginine rich splicing factor 2) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • BCOR (BCL6 Corepressor) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • STAG2 (Stromal Antigen 2) • NUP214 (Nucleoporin 214) • MLLT3 (MLLT3 Super Elongation Complex Subunit) • MRTFA (Myocardin Related Transcription Factor A) • RBM15 (RNA Binding Motif Protein 15)
    |
    TP53 mutation • NPM1 mutation • KMT2A rearrangement • MLL rearrangement • U2AF1 mutation • CEBPA mutation • MLL mutation • NPM1 W288
    |
    FoundationOne® Heme CDx
    1year
    DNA methylation stochasticity is linked to transcriptional variability and identifies convergent epigenetic disruption across genetically-defined subtypes of AML. (PubMed, bioRxiv)
    We further established a relationship between methylation entropy and gene expression variability, connecting the disruption of the epigenetic landscape to transcription in AML. This approach identified a convergent program of epigenetic dysregulation in leukemia, clarifying the contribution of specific genetic mutations to stochastic disruption of the epigenetic and transcriptional landscapes of AML.
    Journal • Tumor mutational burden • Epigenetic controller
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    TMB (Tumor Mutational Burden) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
    |
    TMB-L • CEBPA mutation
    1year
    DNA and RNA NGS for Myeloid Neoplasms Using Oncomine Myeloid Assay GX v2 on GeneXus: An Assessment of Clinical Utility (AMP 2024)
    This DNA- and RNA-based 80-gene panel has proven to be a powerful tool for genomic profiling of myeloid neoplasms. The results were provided to hematopathologists/oncologists in timely fashion with the critical information for diagnosis confirmation, and disease classification, as well as assessment of patient response to treatment.
    Clinical • Next-generation sequencing
    |
    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • 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) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • SRSF2 (Serine and arginine rich splicing factor 2) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • STAG2 (Stromal Antigen 2) • DDX41 (DEAD-Box Helicase 41) • CALR (Calreticulin) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)
    |
    FLT3-ITD mutation • NPM1 mutation • U2AF1 mutation • CEBPA mutation • JAK2 V617F
    |
    Oncomine Myeloid Assay GX
    1year
    The Efficacy of Allogeneic Hematopoietic Stem Cell Transplantation in Newly Diagnosed High-relapse-risk CEBPA Mutant Acute Myeloid Leukemia (clinicaltrials.gov)
    P=N/A, N=50, Recruiting, Ruijin Hospital | Not yet recruiting --> Recruiting | Initiation date: Jun 2024 --> Oct 2024
    Enrollment open • Trial initiation date
    |
    CEBPA (CCAAT Enhancer Binding Protein Alpha)
    |
    CEBPA mutation
    1year
    Analysis of Clinical Characteristics and Prognosis of AML Patients with Co-Mutation of CEBPA Gene and GATA2 Gene (PubMed, Zhongguo Shi Yan Xue Ye Xue Za Zhi)
    The median age of patients with GATA2 gene mutation is lower than that of patients without GATA2 gene mutation. GATA2 gene mutation further prolongs the survival time of AML patients with CEBPA double mutations and CEBPA-bZIP domain mutation.
    Journal
    |
    CEBPA (CCAAT Enhancer Binding Protein Alpha) • GATA2 (GATA Binding Protein 2)
    |
    CEBPA mutation • GATA2 mutation
    1year
    AML typical mutations (CEBPA, FLT3, and NPM1) identify a high-risk CMML independent of CPSS-Mol classification. (PubMed, Blood Adv)
    The genetic profile of these mutCFN CMML patients closely resembled that of AML, with higher-risk clinical characteristics. Our findings lead us to suggest including the assessment of these mutations in CMML prognostic models and treating these patients with AML-type therapies, including intensive chemotherapy and allogeneic stem cell transplantation, whenever feasible, and consider certain targeted therapies approved for use in AML.
    Journal
    |
    FLT3 (Fms-related tyrosine kinase 3) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
    |
    IDH1 mutation • IDH2 mutation • FLT3 mutation • NPM1 mutation • CEBPA mutation
    1year
    Recent progress in AML with recurrent genetic abnormalities. (PubMed, Int J Hematol)
    However, resistance to targeted therapies is also a challenge. This Progress in Hematology features current trends and challenges in favorable-risk AML and FLT3 mutations that are frequently identified in these patients.
    Journal
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    FLT3 (Fms-related tyrosine kinase 3) • NPM1 (Nucleophosmin 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
    |
    FLT3 mutation • NPM1 mutation • CEBPA mutation
    1year
    Trial Evaluating MGTA-456 in Patients With High-Risk Malignancy (clinicaltrials.gov)
    P2, N=22, Active, not recruiting, Masonic Cancer Center, University of Minnesota | Trial completion date: Jun 2024 --> Jun 2025
    Trial completion date
    |
    FLT3 (Fms-related tyrosine kinase 3) • NPM1 (Nucleophosmin 1) • KMT2A (Lysine Methyltransferase 2A) • HLA-DRB1 (Major Histocompatibility Complex, Class II, DR Beta 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
    |
    FLT3-ITD mutation • NPM1 mutation • MLL rearrangement • MLL rearrangement • CEBPA mutation • FLT3 wild-type
    |
    cyclophosphamide • melphalan • fludarabine IV • busulfan • spanlecortemlocel (MGTA-456)
    over1year
    CEBPA restricts alveolar type 2 cell plasticity during development and injury-repair. (PubMed, Nat Commun)
    The temporal change in CEBPA-dependent plasticity reflects AT2 cell developmental history. The ontogeny of AT2 cell plasticity and its transcriptional and epigenetic mechanisms have implications in lung regeneration and cancer.
    Journal
    |
    CEBPA (CCAAT Enhancer Binding Protein Alpha) • SOX9 (SRY-Box Transcription Factor 9)
    |
    CEBPA mutation • SOX9 expression