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    GENE:

    SF3B1 (Splicing Factor 3b Subunit 1)

    i
    Other names: SF3B1, Splicing Factor 3b Subunit 1, Splicing Factor 3b Subunit 1 155kDa, Spliceosome-Associated Protein 155, Splicing Factor 3B Subunit 1, SF3b155, SAP155, Pre-MRNA Splicing Factor SF3b 155 KDa Subunit, Pre-MRNA-Splicing Factor SF3b 155 KDa Subunit, Splicing Factor 3b Subunit 1 155kD, Pre-MRNA Processing 10, SAP 155, Hsh155, PRPF10, PRP10, MDS
    6d
    The tumour suppressor RBM5 activates the helicase DHX15 to regulate splicing. (PubMed, bioRxiv)
    Mutations at these regulatory interfaces are common in cancer genomes and predicted to disrupt its regulation of apoptotic isoforms. Thus, RBM5 acts as a dual-action spliceosome gatekeeper that couples helicase activation with physical stalling to enforce tumour-suppressive alternative splicing programmes.
    Journal
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    SF3B1 (Splicing Factor 3b Subunit 1)
    8d
    Clinical, Genetic, and Pathologic Variability in Myelodysplastic Syndromes and Precursor Conditions Across Race, Ethnicity, and Sex. (PubMed, Am J Hematol)
    These findings highlight the need for enhanced understanding of MDS pathogenesis across patient groups and refined prognostic tools to improve personalized management of MDS spectrum conditions. Trial Registration: ClinicalTrials.gov identifier: NCT02775383.
    Journal
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    TP53 (Tumor protein P53) • DNMT3A (DNA methyltransferase 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2)
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    TP53 mutation
    9d
    A Single-arm, Prospective Study of a Cladribine-Bridged LABU Conditioning Regimen in Allogeneic Hematopoietic Stem Cell Transplantation for Relapsed/Refractory MDS/AML in Elderly Patients (clinicaltrials.gov)
    P=N/A, N=30, Recruiting, The First Affiliated Hospital of Soochow University
    New trial
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    TP53 (Tumor protein P53) • SF3B1 (Splicing Factor 3b Subunit 1)
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    TP53 mutation • SF3B1 mutation • Chr del(5q)
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    cytarabine • azacitidine • cladribine • melphalan • busulfan
    9d
    Digital PCR of CHIP and MR for MRD Monitoring After Allo-HSCT in AML (clinicaltrials.gov)
    P=N/A, N=100, Recruiting, Peking University People's Hospital
    New trial • Tumor mutational burden • Minimal residual disease
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    ABL1 (ABL proto-oncogene 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 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) • SRSF2 (Serine and arginine rich splicing factor 2) • BCOR (BCL6 Corepressor) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • STAG2 (Stromal Antigen 2) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1) • HOXA9 (Homeobox A9) • NUP214 (Nucleoporin 214) • FUS (FUS RNA Binding Protein) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)
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    NPM1 mutation • MLL rearrangement
    14d
    Revumenib in Combination With 7+3 + Midostaurin in AML (clinicaltrials.gov)
    P1, N=22, Recruiting, Richard Stone, MD | Trial completion date: Mar 2027 --> Mar 2028 | Trial primary completion date: Mar 2026 --> Mar 2027
    Trial completion date • Trial primary completion date
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    TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • ABL1 (ABL proto-oncogene 1) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 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) • CREBBP (CREB binding protein) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • STAG2 (Stromal Antigen 2) • MECOM (MDS1 And EVI1 Complex Locus) • NUP214 (Nucleoporin 214) • GATA2 (GATA Binding Protein 2) • KAT6A (Lysine Acetyltransferase 6A) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)
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    TP53 mutation • FLT3-ITD mutation • NPM1 mutation • Chr del(5q)
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    midostaurin • daunorubicin • Revuforj (revumenib)
    15d
    Overexpression of the TGF-β target CCN2 in megakaryocytes: a common feature of MDS with mutated SF3B1 : Uncovering novelinsights into the bone marrow microenvironment in MDS. (PubMed, Virchows Arch)
    In aggregate, these findings may contribute to a better understanding of disease pathophysiology and help elucidate the role of potentially clinically relevant TGF-β signaling. This is particularly significant given the clinical use of agents targeting TGF-β-signaling such as luspatercept, as well as the emergence of several CCN2-targeting therapies currently undergoing clinical or preclinical evaluation with promising results.
    Journal
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    RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TGFB1 (Transforming Growth Factor Beta 1) • CTGF (Connective tissue growth factor)
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    RUNX1 mutation • ASXL1 mutation • SF3B1 mutation
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    Reblozyl (luspatercept-aamt)
    15d
    Melanomas arising in blue nevi exhibit absence of TERT promoter mutations, low tumor mutational burden, and high frequency of distant metastases and disease-related mortality: a clinicopathologic and molecular study of 11 cases. (PubMed, Virchows Arch)
    The presence of MS appeared to correlate with worse clinical outcomes, as 67% of patients with MS died, compared to none without. Our findings expand the recognized molecular diversity of MBNs and provide insights into their biological behaviors, underscoring the clinical significance of identifying potential prognostic factors.
    Journal • Tumor mutational burden
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    TMB (Tumor Mutational Burden) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • GNAQ (G Protein Subunit Alpha Q) • TERT (Telomerase Reverse Transcriptase) • SF3B1 (Splicing Factor 3b Subunit 1) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • SOX17 (SRY-Box Transcription Factor 17)
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    TMB-L • SF3B1 mutation
    15d
    Obesity-associated gene mutations across cancer types: a pan-cancer analysis of TCGA data. (PubMed, BJC Rep)
    These findings support a role for obesity in shaping the genomic landscape of tumors, highlighting the importance of integrating clinical parameters such as BMI into genomic studies to determine the potential impact of obesity on tumor evolution, heterogeneity, and treatment response.
    Journal • Tumor mutational burden • BRCA Biomarker • Pan tumor
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    TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • SF3B1 (Splicing Factor 3b Subunit 1) • DNAH9 (Dynein Axonemal Heavy Chain 9) • UNC13C (Unc-13 Homolog C)
    15d
    Cancer-associated SF3B1 mutation suppresses DNA repair by disrupting the organization of nuclear actin network. (PubMed, Cell Death Dis)
    MYH9 deficiency abolished the assembly of nuclear actin network, which, in turn, suppressed the movement and clustering of DNA damage foci, resulting in inefficient DNA repair. Together, our study reveals a novel mechanism by which SF3B1 mutation influences cancer progression via circRNA, and underscores the important role of MYH9 in organization of nuclear actin network.
    Journal
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    SF3B1 (Splicing Factor 3b Subunit 1)
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    SF3B1 mutation
    20d
    CA-4948 102: Dose Escalation/ Expansion Study of CA-4948 as Monotherapy in Patients With Acute Myelogenous Leukemia (AML) or Myelodysplastic Syndrome (MDS) (clinicaltrials.gov)
    P1/2, N=366, Suspended, Curis, Inc. | Recruiting --> Suspended
    Trial suspension • IO biomarker
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    FLT3 (Fms-related tyrosine kinase 3) • SF3B1 (Splicing Factor 3b Subunit 1) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1)
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    FLT3 mutation • SF3B1 mutation
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    Venclexta (venetoclax) • emavusertib (CA-4948)
    21d
    LS1781: Ascorbic Acid and Chemotherapy for the Treatment of Relapsed or Refractory Lymphoma, CCUS, and Chronic Myelomonocytic Leukemia (clinicaltrials.gov)
    P2, N=80, Recruiting, Mayo Clinic | Trial completion date: Mar 2027 --> Nov 2033 | Trial primary completion date: Mar 2027 --> Feb 2031
    Trial completion date • Trial primary completion date
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • BCL2 (B-cell CLL/lymphoma 2) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • SF3B1 (Splicing Factor 3b Subunit 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CD4 (CD4 Molecule) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)
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    IDH2 mutation • TET2 mutation • SF3B1 mutation • EZH2 mutation • SRSF2 mutation
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    cisplatin • carboplatin • gemcitabine • Rituxan (rituximab) • cytarabine • cyclophosphamide • ifosfamide • oxaliplatin • etoposide IV • decitabine • Truxima (rituximab-abbs) • Hemady (dexamethasone tablets) • Mabtas (rituximab biosimilar) • Starasid (cytarabine ocfosfate) • dexamethasone injection