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    GENE:

    U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1)

    i
    Other names: U2AF1, U2 Small Nuclear RNA Auxiliary Factor 1, U2(RNU2) Small Nuclear RNA Auxiliary Factor Binding Protein, U2 SnRNP Auxiliary Factor Small Subunit, Splicing Factor U2AF 35 KDa Subunit, U2AFBP, U2AF35, U2 Small Nuclear Ribonucleoprotein Auxillary Factor, 35-KD Subunit, U2(RNU2) Small Nuclear RNA Auxiliary Factor 1, U2 Small Nuclear RNA Auxillary Factor 1, Splicing Factor U2AF 35kDa Subunit, U2 Auxiliary Factor 35 KDa Subunit, RNU2AF1, FP793, RN
    11d
    Momelotinib During and After HCT in Myelofibrosis (clinicaltrials.gov)
    P1, N=28, Recruiting, Massachusetts General Hospital | Not yet recruiting --> Recruiting
    Enrollment open
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • ASXL1 (ASXL Transcriptional Regulator 1) • SRSF2 (Serine and arginine rich splicing factor 2) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • HLA-B (Major Histocompatibility Complex, Class I, B)
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    Ojjaara (momelotinib)
    13d
    Prognostic Model Combining Mutational and Cytogenetic Profiles in Acute Myeloid Leukemia Treated with Venetoclax and Hypomethylating Agents. (PubMed, Blood Cancer Discov)
    Compared to existing HMA/VEN-specific models, our model demonstrated superior low- vs. intermediate-risk discrimination (31.9-month separation, p=0.002; HR=0.45, p=0.003), with comparable C-index. Our model supports personalized risk stratification for HMA/VEN-treated AML, pending broader validation.
    Journal
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    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • JAK2 (Janus kinase 2) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • MECOM (MDS1 And EVI1 Complex Locus)
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    TP53 mutation • KRAS mutation • CBL mutation
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    Venclexta (venetoclax)
    14d
    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)
    14d
    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
    14d
    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
    19d
    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)
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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
    28d
    ALLO-BAT: Study of Stem Cell Transplant vs. Non-Transplant Therapies in High-Risk Myelofibrosis (clinicaltrials.gov)
    P=N/A, N=90, Active, not recruiting, University Health Network, Toronto | Recruiting --> Active, not recruiting
    Enrollment closed
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    TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • JAK2 (Janus kinase 2) • ASXL1 (ASXL Transcriptional Regulator 1) • SRSF2 (Serine and arginine rich splicing factor 2) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CALR (Calreticulin)
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    TP53 mutation • ASXL1 mutation • EZH2 mutation • SRSF2 mutation • CALR mutation
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    Jakafi (ruxolitinib) • hydroxyurea
    1m
    Splicing-driven post-translational dysregulation: a new frontier for precision cancer medicine and immunotherapy. (PubMed, Clin Transl Oncol)
    We also look into how splicing-driven PTM changes, especially those that affect ubiquitination pathways and other important modification systems, affect the immune landscape of tumors. This gives us new information about how tumors with splicing mutations become more fit by changing the pathways that control the immune system and tumor surveillance.
    Review • Journal • IO biomarker
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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) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)
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    SF3B1 mutation • SRSF2 mutation
    1m
    Clinical Characteristics, Molecular Analysis and Survival Outcomes of Patients With Extramedullary Acute Myeloid Leukemia: A Retrospective Single-Center Study. (PubMed, Clin Lymphoma Myeloma Leuk)
    Our study demonstrates that patients with eAML subtype have a worse prognosis, unique molecular features and higher tumor burden. Allo-HSCT might be an effective way to improve prognosis. This study provides evidence critical for risk stratification and treatment optimization in eAML.
    Retrospective data • Journal
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    KRAS (KRAS proto-oncogene GTPase) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2A (Lysine Methyltransferase 2A) • TET2 (Tet Methylcytosine Dioxygenase 2) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1)
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    KRAS mutation • NPM1 mutation • ASXL1 mutation • KMT2A mutation • MLL mutation
    1m
    MDS/AML and AML with myelodysplasia-related gene mutations: clinical and molecular similarities. (PubMed, Blood Adv)
    MRD of secondary type mutations alone lacks predictive value, yet MRD of non-DTA mutations in CR is associated with increased CIR in st-AML (SHR MRDpos vs. MRDneg 3.25; p<0.001). Molecularly-defined st-AML, including st-MDS/AML, defines a distinct AML category with a unique genetic, clinical and treatment response profile, in which NGS-based MRD holds markedly prognostic significance.
    Journal
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    SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • ETV6 (ETS Variant Transcription Factor 6) • 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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    ASXL1 mutation • SF3B1 mutation • EZH2 mutation • SRSF2 mutation
    1m
    The Landscape and Evolution of Clonal Hematopoiesis in Chronic Lymphocytic Leukemia. (PubMed, Blood)
    To characterize CH in CLL, 620 patients from two German CLL Study Group trials were analyzed (CLL12 (ibrutinib vs. placebo) and CLL14 (venetoclax-obinutuzumab [Ven-Obi] vs. chlorambucil-obinutuzumab [Clb-Obi])) using error-corrected next-generation sequencing with a VAF threshold of 0.5%. In contrast, CH had no prognostic impact in patients receiving targeted therapies. This study demonstrates the high prevalence of CH, highlights its differential impact across various CLL therapies and underscores its adverse influence on patient outcomes.
    Journal
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    TP53 (Tumor protein P53) • DNMT3A (DNA methyltransferase 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CD34 (CD34 molecule) • BAX (BCL2-associated X protein) • PPM1D (Protein Phosphatase Mg2+/Mn2+ Dependent 1D)
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    Venclexta (venetoclax) • Imbruvica (ibrutinib) • Gazyva (obinutuzumab) • Leukeran (chlorambucil)
    2ms
    BCR::ABL-Negative Triple Negative Myeloproliferative Neoplasm --Review (PubMed, Zhongguo Shi Yan Xue Ye Xue Za Zhi)
    TN-MPN may carry non-classical driver mutations at JAK2 or MPL, or other gene mutations, including somatic mutations of chromatin structure, epigenetic modifiers (TET2, IDH1/2), splicing factors (SF3B1, SRSF2, U2AF1, ZRSR2), and cytokine signaling regulators (CBL, SH2B3), etc., and there is evidence of clonal hematopoiesis. This article reviews the latest research progress in the pathogenesis, diagnosis, clinical features, prognosis and treatment of TN-MPN.
    Review • Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • JAK2 (Janus kinase 2) • 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) • CALR (Calreticulin) • SH2B3 (SH2B Adaptor Protein 3) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)