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GENE:

SRSF2 (Serine and arginine rich splicing factor 2)

News alerts, weekly reports and conference planners

Venetoclax and azacitidine versus CAG for unfit patients with newly diagnosed acute myeloid leukemia: A propensity score-matched analysis. (PubMed, Leuk Res)

This study evaluated the clinical efficacy of venetoclax and azacitidine (VEN+AZA) versus CAG (cytarabine, aclarubicin, and granulocyte colony-stimulating factor) for newly diagnosed adult acute myeloid leukemia (AML) unfit patients. 31.7 % (P = 0.20). Patients with age ≥ 60 y (EFS, P = 0.032), ECOG≥ 2 (EFS, P = 0.047), secondary AML (OS, P = 0.015; EFS, P = 0.039), ELN intermediate-adverse karyotype (OS, P = 0.034; EFS, P = 0.044), RUNX1 mutation (OS, P = 0.003; EFS, P = 0.003) and IDH1/2 mutation (EFS, P = 0.039) showed a preference for VEN+AZA regarding OS, and patients with SRSF2 mutation favored CAG in OS (P = 0.031).

9 days ago

Journal

IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • SRSF2 (Serine and arginine rich splicing factor 2) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)

RUNX1 mutation • SRSF2 mutation

Venclexta (venetoclax) • cytarabine • azacitidine • aclarubicin

10d

Momelotinib During and After HCT in Myelofibrosis (clinicaltrials.gov)

P1, N=28, Recruiting, Massachusetts General Hospital | Not yet recruiting --> Recruiting

10 days ago

Enrollment open

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)

Ojjaara (momelotinib)

13d

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.

13 days ago

Review • Journal

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

13 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

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.

13 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

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

18 days ago

Trial completion date • Trial primary completion date

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

20d

PheCode-guided multi-modal topic modeling of electronic health records improves disease incidence prediction and GWAS discovery from UK Biobank. (PubMed, Brief Bioinform)

These results highlight the potential of probabilistic phenotyping from multi-modal EHRs to improve genetic discovery. The MixEHR-SAGE software is publicly available at: https://github.com/li-lab-mcgill/MixEHR-SAGE.

20 days ago

Journal

SRSF2 (Serine and arginine rich splicing factor 2) • PPP1R15A (Protein Phosphatase 1 Regulatory Subunit 15A)

23d

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.

23 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)

24d

Separate transcription and splicing gene networks are linked and coordinated by the pRb-E2F pathway. (PubMed, Nucleic Acids Res)

Moreover, E2F1 AS activity was evident as cells progress through the cell cycle and during the DNA damage response, and apparent in tumour models. Our results highlight gene networks where transcription and splicing are linked and coordinated by the pRb-E2F pathway, and further establish the widespread influence that pRb, E2F1, and PRMT5 have on regulating biological diversity through RNA splicing control.

24 days ago

Journal

SRSF2 (Serine and arginine rich splicing factor 2) • E2F1 (E2F transcription factor 1) • HNRNPC (Heterogeneous Nuclear Ribonucleoprotein C)

26d

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.

26 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)

27d

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

27 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

28d

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.

28 days ago

Journal

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

TET2 mutation • SRSF2 mutation