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    BIOMARKER:

    CBFB-MYH11 fusion

    i
    Other names: CBFB, Core-Binding Factor Subunit Beta 2, SL3/AKV Core-Binding Factor Beta Subunit, SL3-3 Enhancer Factor 1 Subunit Beta, Core-Binding Factor Beta Subunit, PEBP2-Beta, PEA2-Beta, CBF-Beta, PEBP2B, Polyomavirus Enhancer Binding Protein 2, Beta Subunit, Polyomavirus Enhancer-Binding Protein 2 Beta Subunit, SL3-3 Enhancer Factor 1 Beta Subunit, Core-Binding Factor, Beta Subunit, CBFB, MYH11, Myosin Heavy Chain 11, SMMHC, Myosin, Heavy Polypeptide 11, Smooth Muscle, Myosin Heavy Chain, Smooth Muscle
    Related tests:
    1m
    Resolving intra-tumor heterogeneity and clonal evolution of core-binding factor acute myeloid leukemia patients with single-cell resolution. (PubMed, Exp Hematol Oncol)
    We identified remaining tumor clones in 6 patients with complete remission samples indicating incomplete eradication of the tumor clones. Here, we show that identifying the order of mutation acquisition can provide valuable insights into evolutionary history, offering a framework to improve drug selection in the era of targeted therapies.
    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
    3ms
    Unfavorable disease progression in patients with chronic myeloid leukemia and concurrent t(6;9) translocation (DEK::NUP214 fusion) or inversion 16 (CBFB::MYH11 fusion). (PubMed, Cancer Genet)
    With the routine use of next-generation sequencing (NGS) for gene fusion detection, more patients like this one should be diagnosed and treated accordingly. These cases illustrate the importance of a comprehensive molecular/cytogenetic diagnostic work-up.
    Journal
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    NUP214 (Nucleoporin 214)
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    CBFB-MYH11 fusion
    8ms
    Optical genome mapping with whole genome sequencing identifies complex chromosomal structural variations in acute leukemia. (PubMed, Front Genet)
    An IGH::DUX4 fusion previously found by RNA-seq in Case 3 was not confirmed because DUX4, which has multiple pseudogenes, was refractory to OGM and WGS analyses. OGM is a fundamental tool that complements G-banding analysis in identifying complex SVs in leukemia samples, and WGS effectively closes the gaps in OGM mapping.
    Journal
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    ABL1 (ABL proto-oncogene 1) • RUNX1 (RUNX Family Transcription Factor 1) • ETV6 (ETS Variant Transcription Factor 6) • BCAT1 (Branched Chain Amino Acid Transaminase 1 ) • DUSP22 (Dual Specificity Phosphatase 22) • USP22 (Ubiquitin Specific Peptidase 22) • BAALC (BAALC Binder Of MAP3K1 And KLF4) • DUX4 (Double Homeobox 4) • TAL1 (TAL BHLH Transcription Factor 1)
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    CBFB-MYH11 fusion • ABL1 fusion
    9ms
    Clinical and Molecular Predictors of Response and Survival Following Venetoclax Plus Hypomethylating Agents in Relapsed/Refractory Acute Myeloid Leukemia: A Single-Center Study in Chinese Patients. (PubMed, Cancers (Basel))
    The VEN + HMAs regimen demonstrated considerable efficacy in the treatment of R/R AML patients, with both response rates and overall survival being influenced by distinct genetic features. These findings provide valuable insights into optimizing personalized treatment strategies for this challenging patient population.
    Journal
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    TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • SRSF2 (Serine and arginine rich splicing factor 2) • GATA2 (GATA Binding Protein 2)
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    TP53 mutation • FLT3-ITD mutation • FLT3 mutation • NPM1 mutation • SRSF2 mutation • CBFB-MYH11 fusion
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    Venclexta (venetoclax)
    almost2years
    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
    |
    dasatinib • daunorubicin • idarubicin hydrochloride
    almost2years
    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)
    |
    RUNX1-RUNX1T1 fusion • CBFB-MYH11 fusion
    almost2years
    Acute myeloid leukemia with type I CBFB::MYH11 fusion gene not detected by screening test for leukemia-related chimeric genes (PubMed, Rinsho Ketsueki)
    Subsequently, the type I CBFB::MYH11 fusion gene was identified through exhaustive exploration using RNA sequencing for fusion gene discovery. This exceptional case highlights the existence of a distinctive subtype of CBFB::MYH11 that may yield false-negative results in conventional chimeric fusion screening, thus emphasizing the indispensable utility of PCR primer modification, FISH, and RNA sequencing in the investigative process.
    Journal
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    MPO (Myeloperoxidase)
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    CBFB-MYH11 fusion
    almost2years
    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
    |
    RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
    |
    CBFB-MYH11 fusion
    2years
    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
    |
    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)
    |
    CBFB-MYH11 fusion
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    midostaurin
    2years
    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
    |
    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
    2years
    Utility of Next-Generation Sequencing in the Detection of RNA Fusion Genes in Myeloid Malignancies in Singapore (ASH 2023)
    Conclusion We have demonstrated that NGS has a high sensitivity for identification of RNA fusion genes, is complementary to conventional cytogenetics testing, and has vast clinical impact in terms of diagnosis, prognostication and clinical management. We advocate for the integration of NGS with DNA and RNA sequencing into routine investigation of suspected myeloid malignancies for a more precise and comprehensive diagnostic approach.
    Next-generation sequencing
    |
    FLT3 (Fms-related tyrosine kinase 3) • ABL1 (ABL proto-oncogene 1) • BCR (BCR Activator Of RhoGEF And GTPase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2A (Lysine Methyltransferase 2A) • ETV6 (ETS Variant Transcription Factor 6) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • PML (Promyelocytic Leukemia) • FIP1L1 (Factor Interacting With PAPOLA And CPSF1) • NUP214 (Nucleoporin 214) • MLLT3 (MLLT3 Super Elongation Complex Subunit) • DEK (DEK Proto-Oncogene)
    |
    FLT3-ITD mutation • BCR-ABL1 fusion • NF1 mutation • ASXL1 mutation • U2AF1 mutation • CBFB-MYH11 fusion • MLL fusion • PDGFRA fusion
    |
    Oncomine Myeloid Research Assay