News - SRSF2 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

1 day 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

SRSF2 mutations drive daunorubicin resistance in acute myeloid leukemia via THBS1 stabilization. (PubMed, J Exp Clin Cancer Res)

SRSF2 mutations promoted DNR resistance through multiple mechanisms, and targeted combination therapy with PDGFB pathway inhibitors may represent a novel strategy to improve therapeutic outcomes in patients with mutations.

7 days ago

Journal

SRSF2 (Serine and arginine rich splicing factor 2) • THBS1 (Thrombospondin 1) • PDGFB (Platelet Derived Growth Factor Subunit B)

SRSF2 mutation

Venclexta (venetoclax) • daunorubicin • Synribo (omacetaxine mepesuccinate)

10d

Low-VAF TP53-Mutated AML Displays Distinct Biological Features in a Single-Center Cohort. (PubMed, Biomedicines)

TP53-mutated AML with VAF < 10% may represent a biologically distinct subgroup. Further multicenter studies with larger cohorts are needed to validate and refine the VAF threshold for prognostic evaluation and individualized management.

10 days ago

Journal • Tumor mutational burden • IO biomarker

TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • ASXL1 (ASXL Transcriptional Regulator 1) • CD38 (CD38 Molecule) • SRSF2 (Serine and arginine rich splicing factor 2) • CD34 (CD34 molecule)

TP53 mutation • ASXL1 mutation • SRSF2 mutation • Chr del(5q)

11d

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

11 days ago

Enrollment closed

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)

TP53 mutation • ASXL1 mutation • EZH2 mutation • SRSF2 mutation • CALR mutation

Jakafi (ruxolitinib) • hydroxyurea

11d

Incorporation of genomic determinants improves diagnostic accuracy of oligomonocytic chronic myelomonocytic leukemia. (PubMed, Blood Cancer Discov)

We developed a weighted genomic model and diagnostic workflow showing that combining genomic signatures with bone marrow monocyte frequencies in OM-CMML more accurately predicts progression to overt CMML. These findings support integrating genomic determinants, and our clinic-ready diagnostic workflow, into the CMML diagnostic framework to improve accuracy.

11 days ago

Journal

TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2)

TET2 mutation • SRSF2 mutation

13d

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.

13 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

16d

Sequence-dependent splicing dysregulation drives therapy resistance in pediatric AML. (PubMed, Cell Rep Med)

These outcomes can be improved by pharmacologic modulation of PRMT enzymes. Overall, these findings highlight the importance of modulating splicing defects to improve treatment response in pediatric AML.

16 days ago

Journal

SRSF2 (Serine and arginine rich splicing factor 2)

SRSF2 mutation

21d

Targeting EZH2 Oncogenic Splicing: Decoding the Regulatory Network and Antisense Correction. (PubMed, bioRxiv)

Our lead ASO successfully corrects aberrant splicing and NMD, restores the expression and function of EZH2, and partially rescues hematopoietic defects and cellular properties. Our study demonstrates that ASO pharmacology is an actionable strategy for clinical development, challenging the existing paradigms in SF-mutated cancers.

21 days ago

Journal

EZH2 (Enhancer of zeste 2 polycomb repressive complex 2 subunit) • SRSF2 (Serine and arginine rich splicing factor 2)

SRSF2 mutation

22d

PU.1-Activated Genomic Regions Define Low-risk MDS Subsets Characterized by Immune Dysregulation and Disease Progression. (PubMed, Blood)

Functional studies demonstrate that PU.1 inhibition suppresses MDS cell proliferation and clonogenicity, as impaired PU.1 binding inhibits the activation of key transcriptional programs involved in disease advancement. Collectively, these findings identify epigenetic factors that predispose low-risk MDS patients to progression into high-risk MDS and, ultimately, sAML.

22 days ago

Journal

SRSF2 (Serine and arginine rich splicing factor 2) • CD34 (CD34 molecule)

SRSF2 mutation

24d

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.

24 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

25d

A Yeast-Based High-Throughput Screening Platform for the Discovery of Novel pre-mRNA Splicing Modulators. (PubMed, ACS Chem Biol)

Transcriptome analyses showed that this compound causes widespread changes in gene expression in sensitive SRSF2P95H-expressing cells. Our results demonstrate the utility of using a yeast-based HTS to identify compounds capable of changing pre-mRNA splicing outcomes.

25 days ago

Journal

SRSF2 (Serine and arginine rich splicing factor 2)

SRSF2 mutation

29d

CEBPA-bZIP Mutations in AML Patients Treated With Non-Intensive Therapy: A Study by the Spanish PETHEMA Registry. (PubMed, Hematol Oncol)

We concluded that our series of non-IT AML patients within the PETHEMA registry confirm a low percentage of CEBPA mutated cases which are frequently co-mutated with MDS related genes. Those CEBPA-bZIP cases harbor a similar median OS than those belonging to favorable ELN2024 risk category.

29 days ago

Journal

TP53 (Tumor protein P53) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • CEBPA (CCAAT Enhancer Binding Protein Alpha)

TP53 mutation • SRSF2 mutation