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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
    2d
    Morphologic findings and mutational profiles of myelodysplastic neoplasms with normal versus abnormal karyotype. (PubMed, J Hematop)
    The megakaryocyte lineage is the most expressive in terms of reflecting morphologic dysplasia due to cytogenetic or molecular abnormalities. MDS with NK shows similar morphologic features to non-NK cases, but our findings suggest that non-NK cases exhibit higher levels of megakaryocytic dysplasia.
    Journal • Tumor mutational burden
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    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • SF3B1 (Splicing Factor 3b Subunit 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • STAG2 (Stromal Antigen 2)
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    TP53 mutation • TMB-H • TET2 mutation • SF3B1 mutation
    4d
    Circular RNA expression landscapes in myelodysplastic neoplasms: Associations with mutational signatures and disease progression. (PubMed, Mol Oncol)
    Furthermore, we confirmed the specificity of circZEB1 expression to cases with SF3B1 mutations. We conclude that aberrant circRNA expression is found in MDS and displays associations with disease characteristics and patient outcomes.
    Journal
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    SF3B1 (Splicing Factor 3b Subunit 1) • CD34 (CD34 molecule)
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    SF3B1 mutation
    9d
    NOTCH1 and SF3B1 mutations in chronic lymphocytic leukemia with their clinical associations. (PubMed, Leuk Lymphoma)
    Mutated cases showed advanced Binet stages, elevated LDH, and reduced hemoglobin (HGB) and platelet (PLT) counts. These findings reveal a notable prevalence of NOTCH1 and SF3B1 mutations associated with adverse features, expanding the CLL mutational spectrum and offering valuable prognostic and therapeutic insights.
    Journal
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    NOTCH1 (Notch 1) • SF3B1 (Splicing Factor 3b Subunit 1)
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    LDH elevation • SF3B1 mutation
    10d
    Clinical Characteristics and Molecular Profiling of SF3B1-Mutated Myelodysplastic Syndrome (MDS) in a Real-World Practice. (PubMed, Int J Mol Sci)
    However, the number of co-mutations affected the prognosis of patients. As SF3B1-MDS is heterogenous, further studies are needed to capture its diversity and identify features required to improve risk stratification and personalized treatment.
    Journal • Real-world evidence
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    SF3B1 (Splicing Factor 3b Subunit 1)
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    SF3B1 mutation
    11d
    BRD9 at the crossroads of splicing, chromatin remodeling, and hematopoiesis. (PubMed, Proc Jpn Acad Ser B Phys Biol Sci)
    Thus, BRD9 mechanistically links spliceosomal dysfunction to chromatin dysregulation, bridging aging-associated disease and malignant transformation through context-dependent roles. Among the diverse assemblies of BAF family, these findings position the BRD9-ncBAF axis as both a critical determinant of hematopoietic fate decisions and a promising therapeutic target in hematologic malignancies.
    Review • Journal
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    SF3B1 (Splicing Factor 3b Subunit 1)
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    SF3B1 mutation
    12d
    The Role and Impact of Non-driver Gene Mutations in Myelofibrosis. (PubMed, Curr Hematol Malig Rep)
    This review offers an updated synthesis of the evolving molecular landscape of MF, highlighting how the intricate interplay among genetic alterations has deepened our understanding of disease heterogeneity, allowing refined risk stratification and therapeutic planning. Advances emerging from molecular research and experimental models are progressively translating into clinical practice, promoting more personalized and targeted approaches to the management of MF.
    Review • Journal
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    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • 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) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CALR (Calreticulin) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)
    13d
    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: Nov 2033 --> Mar 2027 | Trial primary completion date: Feb 2031 --> Mar 2027
    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
    13d
    Prognostic impact of myelodysplasia-related gene mutations in FLT3-ITD-mutated acute myeloid leukemia. (PubMed, Leukemia)
    The allelic ratio of FLT3-ITD did not further stratify OS and RFS in this subgroup. These findings suggest that the prognostic relevance of MRG mutations in FLT3-ITD AML is modulated by NPM1 co-mutational status and mirror findings in AML lacking FLT3-ITD.
    Journal
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    FLT3 (Fms-related tyrosine kinase 3) • NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • SRSF2 (Serine and arginine rich splicing factor 2) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • STAG2 (Stromal Antigen 2) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)
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    FLT3-ITD mutation • FLT3 mutation • NPM1 mutation • SF3B1 mutation • EZH2 mutation • SRSF2 mutation
    13d
    Clinical characteristics and prognosis of myelodysplastic neoplasms with chromosome 1 abnormalities (PubMed, Zhonghua Xue Ye Xue Za Zhi)
    Among MDS patients with chromosome 1 abnormalities, 1q trisomy is associated with lower blast counts and reduced TP53 mutation rates/VAF, correlating with significantly improved OS. IB and SF3B1 mutations independently predict poorer survival outcomes in this patient population.
    Retrospective data • Journal
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    TP53 (Tumor protein P53) • SF3B1 (Splicing Factor 3b Subunit 1)
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    TP53 mutation • SF3B1 mutation
    16d
    Comprehensive next generation sequencing of middle ear neuroendocrine tumors. (PubMed, Ann Diagn Pathol)
    This is similar to well-differentiated NETs of other organs, in particular the small intestine and lung. Overall, our findings support the grouped classification of MeNET within the larger NET scheme.
    Journal • Next-generation sequencing • Tumor mutational burden
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    TMB (Tumor Mutational Burden) • HRAS (Harvey rat sarcoma viral oncogene homolog) • DNMT3A (DNA methyltransferase 1) • RB1 (RB Transcriptional Corepressor 1) • NF1 (Neurofibromin 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ATRX (ATRX Chromatin Remodeler) • STAG2 (Stromal Antigen 2) • EP400 (E1A Binding Protein P400)
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    TMB-L • SF3B1 mutation • RB1 deletion • HRAS mutation
    17d
    Mutations with prognostic value in uveal melanoma. Analytical study of variants detected by targeted NGS. (PubMed, Can J Ophthalmol)
    Mutations in BAP1, CHEK2, and DICER1 are independently associated with poorer prognosis in UM, while SF3B1 defines a distinct histologic subgroup. Routine mutational profiling by targeted NGS may aid in risk stratification and follow-up of UM patients.
    Journal • Next-generation sequencing
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    SF3B1 (Splicing Factor 3b Subunit 1) • BAP1 (BRCA1 Associated Protein 1) • LRP1B (LDL Receptor Related Protein 1B) • CHEK2 (Checkpoint kinase 2) • DICER1 (Dicer 1 Ribonuclease III)
    |
    SF3B1 mutation • CHEK2 mutation
    18d
    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 2026 --> Nov 2033 | Trial primary completion date: Dec 2025 --> Feb 2031
    Trial completion date • Trial primary completion date
    |
    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)
    |
    IDH2 mutation • TET2 mutation • SF3B1 mutation • EZH2 mutation • SRSF2 mutation
    |
    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