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.

1 day ago

Journal

NOTCH1 (Notch 1) • SF3B1 (Splicing Factor 3b Subunit 1)

LDH elevation • SF3B1 mutation

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.

3 days ago

Journal • Real-world evidence

SF3B1 (Splicing Factor 3b Subunit 1)

SF3B1 mutation

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.

4 days ago

Review • Journal

SF3B1 (Splicing Factor 3b Subunit 1)

SF3B1 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: Nov 2033 --> Mar 2027 | Trial primary completion date: Feb 2031 --> Mar 2027

6 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

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.

6 days ago

Journal

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)

FLT3-ITD mutation • FLT3 mutation • NPM1 mutation • SF3B1 mutation • EZH2 mutation • SRSF2 mutation

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.

6 days ago

Retrospective data • Journal

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

TP53 mutation • SF3B1 mutation

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.

9 days 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

10d

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.

10 days 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

11d

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

11 days ago

Trial completion date • Trial primary completion date

IDH2 mutation • TET2 mutation • SF3B1 mutation • EZH2 mutation • SRSF2 mutation

12d

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.

12 days ago

Journal

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

SF3B1 mutation

16d

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

16 days ago

Trial completion

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

TP53 mutation • SF3B1 mutation

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

20d

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.

20 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