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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
    1d
    Integration of genomic and clinical variables improves the prediction of myelodysplastic syndromes to acute myeloid leukaemia transformation and prognosis. (PubMed, Br J Haematol)
    This work provides the first genomic characterisation of a diagnosed MDS cohort in China and establishes the first risk prediction model for MDS-to-AML transformation, alongside novel prognostic models for OS and PFS. These tools offer improved prognostic prediction and potential guidance for therapeutic strategies in Chinese patients with MDS.
    Journal
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    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • NF1 (Neurofibromin 1) • JAK2 (Janus kinase 2) • SF3B1 (Splicing Factor 3b Subunit 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • ETV6 (ETS Variant Transcription Factor 6) • SRSF2 (Serine and arginine rich splicing factor 2) • BCOR (BCL6 Corepressor) • CSF3R (Colony Stimulating Factor 3 Receptor) • STAT3 (Signal Transducer And Activator Of Transcription 3) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • STAG2 (Stromal Antigen 2) • GATA2 (GATA Binding Protein 2) • CALR (Calreticulin)
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    TP53 mutation • SRSF2 mutation • STAT3 mutation
    2d
    Methylated CfDNA may distinguish between high- and intermediate-risk uveal melanoma: a pilot study. (PubMed, Cancer Cell Int)
    This pilot study reports on cfDNA methylation signatures that differentiates UM patients from HBDs, and may distinguish between intermediate and high risk UM subgroups, supporting its prognostic potential. However, its role in monitoring disease progression requires further validation. Independent replication studies are warranted to confirm our findings and evaluate the clinical applicability in UM.
    Journal
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    SF3B1 (Splicing Factor 3b Subunit 1) • BAP1 (BRCA1 Associated Protein 1)
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    SF3B1 mutation
    3d
    Luspatercept for Anemia in Lower Risk MDS or Non-proliferative MDS/MPN Neoplasms (clinicaltrials.gov)
    P2, N=70, Recruiting, H. Lee Moffitt Cancer Center and Research Institute | Suspended --> Recruiting
    Enrollment open
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    SF3B1 (Splicing Factor 3b Subunit 1)
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    SF3B1 mutation
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    Reblozyl (luspatercept-aamt)
    17d
    Somatic Mutation Profiling and Therapeutic Landscape of Breast Cancer in the MENA Region. (PubMed, Cells)
    Therapeutic annotation using OncoKB identified 223 actionable or likely oncogenic variants, highlighting potential targets for precision oncology. This study provides a comprehensive characterization of the breast cancer mutational landscape in MENA patients and offers a valuable resource for advancing genomic and therapeutic research in this demographic.
    Journal • BRCA Biomarker
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    TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ATM (ATM serine/threonine kinase) • SF3B1 (Splicing Factor 3b Subunit 1) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • ERCC2 (Excision repair cross-complementation group 2) • KMT2C (Lysine Methyltransferase 2C) • RAD51C (RAD51 paralog C) • ERCC3 (ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit) • GATA3 (GATA binding protein 3)
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    TP53 mutation • PIK3CA mutation • ATM mutation • PTEN mutation
    19d
    Navigating the New Era in Myelodysplastic Neoplasms: A Review of Prognostic Implications of the IPSS-M Score and 2022 WHO Classification. (PubMed, Hematol Rep)
    This review synthesizes the recent literature and critical studies validating these classification and prognostic updates, discussing their clinical impact, practical considerations, and implications for targeted therapeutic strategies. By focusing on molecular pathogenesis, the latest classification systems and prognostic models promise significant advances in patient-specific management, setting the stage for future innovations in treatment and improved patient outcomes.
    Review • Journal
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    TP53 (Tumor protein P53) • SF3B1 (Splicing Factor 3b Subunit 1)
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    SF3B1 mutation
    19d
    Prognostic impact of age and MDS-associated mutations in NPM1 -mutated AML. (PubMed, medRxiv)
    After stratification of patients by age, there was not a significant difference between MDSm+ and MDSm-in either younger patients (HR 0.99, p=0.98) or older patients (HR 1.42, p =0.33). These findings indicate that MDSm+ in NPM1 + AML is not independently associated with adverse risk after adjusting for age and highlight the need for age-adjusted AML risk models.
    Journal
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    NPM1 (Nucleophosmin 1) • SF3B1 (Splicing Factor 3b Subunit 1) • SRSF2 (Serine and arginine rich splicing factor 2)
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    NPM1 mutation
    19d
    Single-cell spatial mapping reveals dynamic bone marrow microarchitectural alterations and enhances clinical diagnostics in MDS. (PubMed, bioRxiv)
    Using all extracted tissue features, we developed a composite spatially informed "MDS severity score", which aligned with clinical and genetic parameters across serial samples. This work uncovers previously unrecognized, genotype-linked microarchitectural alterations in MDS, the measurement of which may enhance existing diagnostic and disease monitoring strategies.
    Journal
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    TP53 (Tumor protein P53) • SF3B1 (Splicing Factor 3b Subunit 1)
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    TP53 mutation • SF3B1 mutation
    19d
    A Unifying Mechanism for Shared Splicing Aberrations in Splicing Factor Mutant Cancers. (PubMed, bioRxiv)
    Our results link replication stress, kinase signaling, and RNA processing across genetically diverse clonal states, highlighting potential therapeutic approaches at these nodes. While most splicing changes differ by splicing factor (SF) mutation, certain retained introns are common across subtypes.Changes in RI are bidirectional, concordant across mutant groups, and mirrors SRSF1 loss.SF mutations activate DDR, triggering an AMPKα/AKT imbalance that culminates in SRSF1 hypophosphorylation.Relieving R-loop induced DDR restores SRSF1 phosphorylation and reverses RI.
    Journal
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    SF3B1 (Splicing Factor 3b Subunit 1) • SRSF2 (Serine and arginine rich splicing factor 2) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • SRPK1 (SRSF Protein Kinase 1)
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    SF3B1 mutation • SRSF2 mutation
    1m
    Mutational Landscape and Clinical Impact of SPEN Mutations in Patients with Chronic Lymphocytic Leukemia. (PubMed, Cancers (Basel))
    These data show that SPEN mutations in CLL are associated with adverse prognostic impact and should be included in sequencing assays performed for the prognostic workup of CLL patients.
    Journal • IO biomarker
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    TP53 (Tumor protein P53) • NOTCH1 (Notch 1) • SF3B1 (Splicing Factor 3b Subunit 1) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • BIRC3 (Baculoviral IAP repeat containing 3) • MUC2 (Mucin 2)
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    TP53 mutation
    1m
    Molecular abnormalities and clinical features in adult patients with acute myeloid leukemia in Thailand. (PubMed, Diagn Pathol)
    The complexity of AML was influenced by various cytogenetic and molecular abnormalities, which contributed to patients' heterogeneous presentation and survival outcomes. In addition to the previous data, IDH1, IDH2, and DNMT3A mutations might have affected survival outcomes in AML patients in our retrospective cohort. However, further studies with larger sample sizes are needed to validate these observations.
    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) • RUNX1 (RUNX Family Transcription Factor 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) • RAS (Rat Sarcoma Virus)
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    TP53 mutation • FLT3-ITD mutation • IDH1 mutation • FLT3 mutation • NPM1 mutation • RUNX1 mutation • RAS mutation • ASXL1 mutation • TET2 mutation • SF3B1 mutation • FLT3-TKD mutation • SRSF2 mutation
    1m
    BRD9 depletion-mediated ALOX5 upregulation via chromatin dysregulation induces ferroptosis in SF3B1-mutant hematopoiesis. (PubMed, Int J Hematol)
    These events increase lipid peroxidation and ferroptosis susceptibility in hematopoietic cells as evidenced by enhanced BODIPY-C11 oxidation and erastin sensitivity. Our findings reveal a spliceosome-to-chromatin-to-metabolism pathway in which SF3B1 mutations promote ferroptosis through BRD9-mediated chromatin dysregulation, highlighting the previously unrecognized metabolic rewiring in myeloid malignancies.
    Journal
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    SF3B1 (Splicing Factor 3b Subunit 1) • ALOX5 (Arachidonate 5-Lipoxygenase)
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    SF3B1 mutation
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    erastin