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    BIOMARKER:

    BCL11B mutation

    i
    Other names: BCL11B, BAF Chromatin Remodeling Complex Subunit BCL11B, Radiation-Induced Tumor Suppressor Gene 1 Protein, B-Cell CLL/Lymphoma 11B (Zinc Finger Protein), BCL11B, BAF Complex Component, COUP-TF-Interacting Protein 2, B-Cell Lymphoma/Leukemia 11B, B Cell CLL/Lymphoma 11B, BCL-11B, CTIP2, HRit1, RIT1, B-Cell CLL/Lymphoma 11B/T-Cell Receptor Delta Constant Region, Fusion Protein, Zinc Finger Protein HRit1 Alpha, B-Cell Lymphoma/Leukaemia 11B, B-Cell CLL/Lymphoma 11B, BCL11B/TRDC Fusion, HRIT1-Alpha
    Entrez ID:
    58208
    3d
    Mutations at BCL11B Exon 4 Associated with T Cell Acute Lymphoblastic Leukemia Are Facilitated by AID and Formation of Non-B DNA Conformations. (PubMed, Mol Cell Biol)
    Importantly, various lines of experimentation reveal that BCL11B FR could fold into parallel G-quadruplex, triplex, and hairpin structures, which could act as a replication/transcription block, causing mutagenesis. Thus, our results suggest that AID binds to BCL11B exon 4 due to non-B DNA formation, causing U:G mismatches or replication blocks, which, when repaired erroneously, generates deleterious mutations, resulting in loss of functionality of BCL11B, and thus becomes the cause of T-ALL.
    Journal
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    BCL11B (BAF Chromatin Remodeling Complex Subunit BCL11B)
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    BCL11B mutation
    6ms
    MOLECULAR PROFILING OF ALL IN PEDIATRIC PATIENTS TREATED AT SOLCA, GUAYAQUIL. EVALUATION OF PROGNOSTIC VALUE. PRELIMINARY REPORT. (EHA 2024)
    This is a preliminary report of the results of NGS analysis of a group of pediatric patients that will allow riskstratification and will provide recommendations of diverse therapeutical approaches within the concept ofpersonalized medicine. The 198 genes panel is ample and identified mutations present in a cluster of 8 genes in the entire set of cases(46/46). We will correlate the obtained mutational profile with response to treatment and relapse considering eternalfactors as nutritional status and access to medical services and medication.
    Clinical
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    FLT3 (Fms-related tyrosine kinase 3) • ABL1 (ABL proto-oncogene 1) • BCR (BCR Activator Of RhoGEF And GTPase) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • NOTCH1 (Notch 1) • JAK2 (Janus kinase 2) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • ETV6 (ETS Variant Transcription Factor 6) • CRLF2 (Cytokine Receptor Like Factor 2) • IKZF1 (IKAROS Family Zinc Finger 1) • WT1 (WT1 Transcription Factor) • TCF3 (Transcription Factor 3) • PBX1 (PBX Homeobox 1) • CSF1R (Colony stimulating factor 1 receptor) • FOXP1 (Forkhead Box P1) • CALR (Calreticulin) • BCL11B (BAF Chromatin Remodeling Complex Subunit BCL11B) • LZTS1 (Leucine Zipper Tumor Suppressor 1) • MLLT10 (MLLT10 Histone Lysine Methyltransferase DOT1L Cofactor) • PDGFC (Platelet Derived Growth Factor C)
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    CRLF2 rearrangement • BCL11B mutation
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    FusionPlex™ Pan-Heme panel
    8ms
    Pivotal role of BCL11B in the immune, hematopoietic and nervous systems: a review of the BCL11B-associated phenotypes from the genetic perspective. (PubMed, Genes Immun)
    In this review, we sought to compile the phenotypic and genotypic variables associated with previously reported mutations in this gene in order to provide a better understanding of the consequences of deleterious variants. We also highlight the importance of a careful evaluation of the mutation type, its location and the pattern of inheritance of the variants in order to assign the most accurate pathogenicity and actionability of the genetic findings.
    Review • Journal
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    BCL11B (BAF Chromatin Remodeling Complex Subunit BCL11B)
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    BCL11B mutation
    9ms
    Williams-Beuren syndrome in pediatric T-cell acute lymphoblastic leukemia: A rare case report and review of literature. (PubMed, Medicine (Baltimore))
    To the best of our knowledge, this is the first reported case of WBS in T-cell acute lymphoblastic leukemia. We want to emphasize that the occurrence of leukemia in this patient might be related to the loss of 7q11.23 and microdeletion of 9p21.3 (including 3 TSGs), but the relationship between WBS and malignancy remains unclear. Further studies are required to clarify the relationship between WBS and malignancy.
    Review • Journal
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    NOTCH1 (Notch 1) • BCL11B (BAF Chromatin Remodeling Complex Subunit BCL11B) • USP7 (Ubiquitin Specific Peptidase 7)
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    BCL11B mutation
    12ms
    BCL11B Mutations Are Associated with Higher CD8+ T-Cell Percentage and Favorable Clinical Outcomes in Patients with T-Cell Acute Lymphoblastic Leukemia. (PubMed, Clin Med Insights Oncol)
    No abstract available
    Clinical data • Journal
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    CD8 (cluster of differentiation 8) • BCL11B (BAF Chromatin Remodeling Complex Subunit BCL11B)
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    BCL11B mutation
    1year
    Landscape of BCL11B mutations in Human Cancer (AMP 2023)
    Our report represents one of the most extensive and detailed studies regarding the landscape of BCL11B point and indel mutations in human cancer. BCL11B alterations occur widely in mature, immature, B-cell, Tcell, and sarcomatous malignancies. TP53, PIM1, and SOCS1 are the most commonly co-mutated genes.
    TP53 (Tumor protein P53) • NOTCH1 (Notch 1) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2A (Lysine Methyltransferase 2A) • PIM1 (Pim-1 Proto-Oncogene) • MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1) • SOCS1 (Suppressor Of Cytokine Signaling 1) • BCL11B (BAF Chromatin Remodeling Complex Subunit BCL11B) • MLLT10 (MLLT10 Histone Lysine Methyltransferase DOT1L Cofactor)
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    PIM1 mutation • BCL11B mutation
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    FoundationOne® Heme CDx
    1year
    Preclinical Assessment of Dual FLT3 and BCL‑2 Inhibition in Lineage Ambiguous Leukemia (SOHO 2023)
    We performed preclinical drug testing of the BCL-2 inhibitor, venetoclax, and the FLT3 inhibitor, gilteritinib, in two FLT3-mutant BCL11B-a PDX models: one T/myeloid MPAL and one acute undifferentiated leukemia (AUL). We showed that the combination of FLT3 and BCL-2 inhibition is highly effective at reducing leukemia burden in two preclinical models of BCL11B-a lineage ambiguous leukemia. Studies in additional PDXs are ongoing to identify the mechanism of synergy and clarify the molecular basis for heterogeneity in clinical response in the different preclinical models.
    Preclinical • IO biomarker
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    FLT3 (Fms-related tyrosine kinase 3) • BCL11B (BAF Chromatin Remodeling Complex Subunit BCL11B)
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    FLT3 mutation • BCL2 expression • BCL11B mutation
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    Venclexta (venetoclax) • Xospata (gilteritinib)
    1year
    T-cell lymphoma patient harboring BCL11B mutations had favorable overall survival. (PubMed, Asia Pac J Clin Oncol)
    BCL11B mutations were associated with favorable clinical outcome for TCL patients; it might be considered as a novel biomarker for TCL prognostic stratification.
    Journal
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    BCL11B (BAF Chromatin Remodeling Complex Subunit BCL11B)
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    BCL11B mutation
    over1year
    The emerging role of MCPH1/BRIT1 in carcinogenesis. (PubMed, Front Oncol)
    This review also showed that deregulation of MCPH1/BRIT1 is significantly associated with reduced overall survival in 57% (12/21) and relapsed free survival in 33% (7/21) of cancer types especially in oesophageal squamous cell carcinoma and renal clear cell carcinoma. A common finding of this study is that the loss of MCPH1/BRIT1 gene expression plays a key role in promoting genome instability and mutations supporting its function as a tumour suppressor gene.
    Review • Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • TERT (Telomerase Reverse Transcriptase) • BCL11B (BAF Chromatin Remodeling Complex Subunit BCL11B)
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    BRCA1 expression • BCL11B mutation
    2years
    Mapping the genetic features of T-ALL cases through simplified NGS approach. (PubMed, Clin Immunol)
    HTS is a useful approach that allows simultaneously analyzing mutations, CNVs and the clonal repertoire in T-ALL patients. This approach may simplify the genetic assessment of ALL.
    Journal • Next-generation sequencing
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    FLT3 (Fms-related tyrosine kinase 3) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • BCL11B (BAF Chromatin Remodeling Complex Subunit BCL11B)
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    CDKN2A deletion • BCL11B mutation • FLT3 amplification
    4years
    The potential oncogenic role of the RAS-like GTP-binding gene RIT1 in glioblastoma. (PubMed, Cancer Biomark)
    In conclusion, our study presented for the first time a potential oncogenic role for RIT1 in glioblastoma. Knowing that the RAS superfamily of proteins has created an evolution in the cancer field, RIT1 should be added to this list through further investigations on its possible usage as a biomarker and therapeutic target in glioblastoma.
    Journal
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    STAT3 (Signal Transducer And Activator Of Transcription 3) • BCL11B (BAF Chromatin Remodeling Complex Subunit BCL11B)
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    BCL11B mutation
    over4years
    BCL11B-related disorder in two canadian children: Expanding the clinical phenotype. (PubMed, Eur J Med Genet)
    The second patient had developmental delay, dysmorphic features, spasticity in lower limbs and dental anomalies. Our report contributes to the knowledge of the BCL11BRD, expands the clinical phenotype, and can also aid with genetic counseling of newly identified patients.
    Clinical • Journal
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    BCL11B (BAF Chromatin Remodeling Complex Subunit BCL11B)
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    BCL11B mutation