News - SF3B1 mutation

17h

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.

17 hours ago

Journal • Next-generation sequencing • Tumor mutational burden

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)

TMB-L • SF3B1 mutation • RB1 deletion • HRAS mutation

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.

1 day ago

Journal • Next-generation sequencing

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

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

2 days ago

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

A rare cytogenetically cryptic MECOM rearrangement in a patient with myelodysplastic neoplasm and SF3B1 mutation identified by RNA sequencing: a case report. (PubMed, Front Oncol)

Given the well-documented association between SF3B1 mutations and MECOM rearrangements, analysis of MECOM expression and RNA sequencing (RNA-seq) is crucial for SF3B1-mutated patients, even in the absence of elevated blast counts. Furthermore, this case underscores the need for further research into the synergistic biological role of spliceosome mutations and MECOM rearrangements in driving leukemia.

3 days ago

Journal

SF3B1 (Splicing Factor 3b Subunit 1) • MECOM (MDS1 And EVI1 Complex Locus)

SF3B1 mutation

Ibrutinib, Fludarabine, and Pembrolizumab in High-Risk or Relapsed/Refractory Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma (clinicaltrials.gov)

P2, N=15, Completed, National Heart, Lung, and Blood Institute (NHLBI) | Active, not recruiting --> Completed

8 days ago

Trial completion

TP53 (Tumor protein P53) • SF3B1 (Splicing Factor 3b Subunit 1)

TP53 mutation • SF3B1 mutation

Keytruda (pembrolizumab) • Imbruvica (ibrutinib) • fludarabine IV

12d

Oncogenic SF3B1 mutations alter the splicing of mRNA noncoding regions to induce a novel therapeutic vulnerability. (PubMed, Blood)

Novel protein degrader small molecules which co-opt DCAF16 to degrade BRD4 as a neosubstrate demonstrated preferential selectivity for SF3B1 mutant cancers and CLL primary patient specimens due to increased DCAF16 protein levels. In turn, this reveals the therapeutic relevance of mutant SF3B1 dysregulation of transcript untranslated regions and uncovers a novel strategy for the treatment of these important neoplasms.

12 days ago

Journal

SF3B1 (Splicing Factor 3b Subunit 1) • BRD4 (Bromodomain Containing 4) • DDB1 (Damage Specific DNA Binding Protein 1) • MAP3K7 (Mitogen-Activated Protein Kinase Kinase Kinase 7)

SF3B1 mutation

14d

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.

14 days ago

Review • Journal • IO biomarker

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)

SF3B1 mutation • SRSF2 mutation

15d

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders. (PubMed, Nat Commun)

Targeted and genome-wide analysis of RNA splicing reveal that they affect canonical and alternative splicing more moderately than somatic variants, and subtly modify the splicing of many transcripts. These findings place SF3B1 among the rare U2 snRNP components implicated in both cancer and neurodevelopmental disorders, highlighting its critical and multifaceted role in human disease.

15 days ago

Journal

SF3B1 (Splicing Factor 3b Subunit 1)

SF3B1 mutation

19d

Impact of Mutational Landscape and Burden on RBC Transfusion Response in Patients With Lower-Risk Myelodysplastic Syndromes (LR-MDS) in the COMMANDS Study. (PubMed, Am J Hematol)

Here we report red blood cell (RBC) transfusion response analysis based on somatic mutations profile and disease risk for patients treated with luspatercept or epoetin alfa in the COMMANDS trial. Luspatercept represents an effective treatment option in various mutational backgrounds in LR MDS. Trial Registration: ClinicalTrials.gov Identifier: NCT03682536.

19 days ago

Journal

SF3B1 (Splicing Factor 3b Subunit 1)

SF3B1 mutation

Reblozyl (luspatercept-aamt)

22d

Rare Coexistence of Myelodysplastic Neoplasm and CD4 T-cell Lymphoproliferation. (PubMed, Clin Lab)

This is the first reported case of MDS-SF3B1 coexisting with clonal CD4 T-cell proliferation.

22 days ago

Journal

CD8 (cluster of differentiation 8) • SF3B1 (Splicing Factor 3b Subunit 1) • CD4 (CD4 Molecule)

SF3B1 mutation

25d

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.

25 days ago

Journal

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)

ASXL1 mutation • SF3B1 mutation • EZH2 mutation • SRSF2 mutation