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    BIOMARKER:

    CREBBP mutation

    i
    Other names: CREBBP, CBP, KAT3A, RSTS, RTS, CREB binding protein
    Entrez ID:
    1387
    Related biomarkers:
    Mutation
    CNA
    Others
    11ms
    Meningiomas in Rubinstein-Taybi syndrome: A case report and comprehensive review. (PubMed, J Neuropathol Exp Neurol)
    Meningiomas in RTS patients have common clinicopathological characteristics including comorbidity with other tumors, radiologically intra-osseous growth, and uncommon histopathology such as ossifying and secretory features. Given the genetic nature and rarity of RTS-associated meningiomas, further investigation of their characteristics may define molecular targets for improved therapeutic options for RTS patients.
    Journal
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    CREBBP (CREB binding protein)
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    CREBBP mutation
    1year
    Childhood acute lymphoblastic leukemia with CREBBP gene mutation: a clinical analysis of 14 cases (PubMed, Zhongguo Dang Dai Er Ke Za Zhi)
    ALL with CREBBP gene mutation is more common in girls and has a low induction remission rate and a high recurrence rate, and it is often accompanied by other types of gene mutations and abnormal karyotypes. Most children with recurrence can achieve long-term survival after immunotherapy or hematopoietic stem cell transplantation.
    Retrospective data • Journal • IO biomarker
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    KRAS (KRAS proto-oncogene GTPase) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ETV6 (ETS Variant Transcription Factor 6) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • CREBBP (CREB binding protein) • PAX5 (Paired Box 5) • SH2B3 (SH2B Adaptor Protein 3)
    |
    KRAS mutation • NRAS mutation • CREBBP mutation
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    Blincyto (blinatumomab)
    1year
    Low-grade follicular lymphoma with interferon regulatory factor-4 rearrangement: Expanding the spectrum of interferon regulatory factor-4-rearranged lymphomas. (PubMed, EJHaem)
    Molecular analysis revealed mutations in CREBBP, KMT2D, IRF4, and CARD11, with previously unreported variants identified in IRF4 and CREBBP. This case broadens the spectrum of B-cell lymphomas associated with IRF4 rearrangement by demonstrating a small B-cell lymphoma with this genetic feature.
    Journal
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    KMT2D (Lysine Methyltransferase 2D) • CREBBP (CREB binding protein) • CARD11 (Caspase Recruitment Domain Family Member 11) • IRF4 (Interferon regulatory factor 4)
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    CREBBP mutation
    over1year
    CHARACTERIZING THE MUTATIONAL LANDSCAPE OF FOLLICULAR LYMPHOMA AT DIAGNOSIS AND RELAPSE: INSIGHTS FROM MSK-IMPACT NEXT GENERATION SEQUENCING PLATFORM (EHA 2024)
    This study showcases a unique cohort consisting of 414 FL samples, highlighting the correlation betweenclinical and molecular data through the application of the MSK-IMPACT panels. Continuing research endeavorsare directed towards refining our understanding of clinical correlations with treatment patterns and diseaseprogression trajectories, with a potential exploration of novel targeted pathways.
    IO biomarker • Next-generation sequencing
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    BCL2 (B-cell CLL/lymphoma 2) • CREBBP (CREB binding protein) • TNFRSF14 (TNF Receptor Superfamily Member 14) • STAT6 (Signal transducer and activator of transcription 6)
    |
    CREBBP mutation
    |
    MSK-IMPACT
    over1year
    Th2 Cells Are Associated with Tumor Recurrence Following Radiation. (PubMed, Cancers (Basel))
    A pathway analysis of genes correlated with Th2 cells revealed the potential repression of the antitumor immune response and the activation of BRCA1-associated DNA damage repair in multiple cohorts. The Th2 infiltrates were enriched in the HPV/p16-negative HNSCC tumors and associated with LRR and mutations in CASP8, CREBBP/EP300, and pathways previously shown to impact the response to radiation.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • CREBBP (CREB binding protein) • EP300 (E1A binding protein p300) • CASP8 (Caspase 8)
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    CREBBP mutation • CDKN2A negative • EP300 mutation
    over1year
    The RAS-signaling-pathway-mutation-related prognosis in B-cell acute lymphoblastic leukemia: A report from South China children's leukemia group. (PubMed, Hematol Oncol)
    Four cases relapsed in the lately 3 years were RAS signaling pathway mutation-positive. RAS signaling pathway mutation is an important biomarker for poorer relapse-free survival in pediatric B-ALL patients despite good early MRD levels.
    Journal
    |
    KRAS (KRAS proto-oncogene GTPase) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • CREBBP (CREB binding protein)
    |
    NRAS mutation • RAS mutation • CREBBP mutation
    over1year
    Urinary comprehensive genomic profiling assists in non-invasive detection and molecular staging of upper tract urothelial carcinoma (AUA 2024)
    uCGP can identify genomic features associated with UTUC and provide definitive results in cases of atypical cytology. Unique genomic patterns provide insight into tumor grade and origin. This study suggests uCGP can provide diagnostic and prognostic information for the evaluation for UTUC.
    HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • ARID1A (AT-rich interaction domain 1A) • TERT (Telomerase Reverse Transcriptase) • KMT2D (Lysine Methyltransferase 2D) • CREBBP (CREB binding protein) • STAG2 (Stromal Antigen 2) • SOX4 (SRY-Box Transcription Factor 4)
    |
    PIK3CA mutation • HER-2 mutation • ARID1A mutation • KMT2D mutation • CREBBP mutation • ERBB3 mutation • STAG2 mutation • TERT mutation
    |
    UroAmp
    over1year
    Study of Mocetinostat in Selected Patients With Mutations of Acetyltransferase Genes in Relapsed and Refractory Diffuse Large B-Cell Lymphoma and Follicular Lymphoma (clinicaltrials.gov)
    P1/2, N=7, Terminated, Memorial Sloan Kettering Cancer Center | Phase classification: P2 --> P1/2
    Phase classification
    |
    CREBBP (CREB binding protein)
    |
    CREBBP mutation • EP300 mutation
    |
    mocetinostat (MGCD0103)
    almost2years
    Feasibility of Circulating Tumor DNA Analysis in Patients with Follicular Lymphoma. (PubMed, Cancer Res Treat)
    Forty samples from patients receiving rituximab-containing immunochemotherapy were analyzed...Analysis of ctDNA mutations in plasma at diagnosis might help predict outcome of disease, while analysis during follow-up may help to monitor disease status of patients with advanced FL. However, the feasibility of ctDNA measurement must be improved in order for it to become an appropriate and clinically relevant test in FL patients.
    Journal • Tumor mutational burden • Circulating tumor DNA
    |
    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • KMT2D (Lysine Methyltransferase 2D) • KMT2C (Lysine Methyltransferase 2C) • CREBBP (CREB binding protein)
    |
    TP53 mutation • KMT2D mutation • CREBBP mutation • KMT2C mutation
    |
    Rituxan (rituximab)
    2years
    Molecular and immunological landscape of sex-based differences in breast cancer: a distinct disease in men. (SABCS 2023)
    These data indicate that MaBC has a differential mutational frequency, copy number alteration, immune gene expression and immune cell infiltration and overall survival compared to their FeBC counterparts. A better understanding of these sex-based differences with additional research may help inform disease outcomes, provide a rationale for tailored therapeutic approaches and design future treatments. Table 1.
    Tumor mutational burden • BRCA Biomarker • MSi-H Biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • ASXL1 (ASXL Transcriptional Regulator 1) • BCL6 (B-cell CLL/lymphoma 6) • KMT2D (Lysine Methyltransferase 2D) • RARA (Retinoic Acid Receptor Alpha) • WT1 (WT1 Transcription Factor) • FGF3 (Fibroblast growth factor 3) • CHEK2 (Checkpoint kinase 2) • CREBBP (CREB binding protein) • RAD51B (RAD51 Paralog B) • TSC1 (TSC complex subunit 1) • HLA-DQB1 (Major Histocompatibility Complex, Class II, DQ Beta 1) • FOXA1 (Forkhead Box A1) • MRE11A (MRE11 homolog, double strand break repair nuclease) • CHD1 (Chromodomain Helicase DNA Binding Protein 1) • PPM1D (Protein Phosphatase Mg2+/Mn2+ Dependent 1D) • FLCN (Folliculin) • IL1A (Interleukin 1, alpha) • AMER1 (APC Membrane Recruitment Protein 1) • DAXX (Death-domain associated protein) • HLA-DQB2 (Major Histocompatibility Complex, Class II, DQ Beta 2)
    |
    TP53 mutation • MSI-H/dMMR • HER-2 negative • HER-2 mutation • STK11 mutation • ASXL1 mutation • ESR1 mutation • CREBBP mutation • AKT1 mutation • TSC1 mutation • MHC-II expression • FLCN mutation • RAD51 mutation
    2years
    Crebbp Mutations Are Associated with Slow Minimal Residual Response to Upfront Induction Chemotherapy in Pediatric High-Hyperdiploid B-Cell Precursor Acute Lymphoblastic Leukemia Treated in the AIEOP-BFM ALL 2009 Protocol (ASH 2023)
    Therefore, the inclusion of CREBBP mutated patients in very low risk protocols should be carefully evaluated. The validation of these findings is ongoing through the analysis of patients treated by other international study groups adopting different chemotherapy backbones.
    Clinical
    |
    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ABL1 (ABL proto-oncogene 1) • NRAS (Neuroblastoma RAS viral oncogene homolog) • NF1 (Neurofibromin 1) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • ETV6 (ETS Variant Transcription Factor 6) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • IKZF1 (IKAROS Family Zinc Finger 1) • CREBBP (CREB binding protein) • AFF1 (AF4/FMR2 Family Member 1)
    |
    KRAS mutation • BRAF mutation • NRAS mutation • NF1 mutation • RAS mutation • CREBBP mutation • IKZF1 deletion • IKZF1 mutation
    2years
    Combination Epigenetic Therapy Using YF2, a First-in-Class Histone Acetyltransferase Activator, Restores Immunogenicity in Diffuse Large B-Cell Lymphoma (ASH 2023)
    Other epigenetic therapies, such as tazemetostat and belinostat, are approved for use in follicular and T-cell lymphoma, respectively, but have limited single agent activity in DLBCL. In summary, these data propose YF2 combination epigenetic therapy as a means to increase immunogenicity in CBP/p300- and EZH2-mutated DLBCL. While our preliminary mouse experiment provided promising initial results, an expanded study is underway to statistically confirm the exciting trends that we observed.
    Epigenetic controller
    |
    CD8 (cluster of differentiation 8) • B2M (Beta-2-microglobulin) • CREBBP (CREB binding protein) • CD4 (CD4 Molecule)
    |
    EZH2 mutation • CREBBP mutation • EZH2 wild-type
    |
    Tazverik (tazemetostat) • YF2 • Beleodaq (belinostat)