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Other names: SRSF2, Serine And Arginine Rich Splicing Factor 2, Splicing Factor, Arginine/Serine-Rich 2, Serine/Arginine-Rich Splicing Factor 2, Splicing Factor SC35, Splicing Component, 35 KDa, SR Splicing Factor 2, SFRS2, Protein PR264, SFRS2A, SRp30b, PR264
Entrez ID:
Related biomarkers:
Clinicopathological Features of Isolated Thrombocytopenia Associated with SRSF2 Mutations: A Case Series (ASH 2022)
Three patients were treated with thrombopoietin receptor agonists (2 eltrombopag, 1 romiplostim) and had minimal transient platelet count increases not meeting the IWG MDS criteria for response. Three patients have received allogeneic hematopoietic stem cell transplant.Conclusion :This series describes a subset of CCUS patients with isolated thrombocytopenia associated with SRSF2 mutations. We also describe atypical megakaryocytic findings which do not meet current WHO diagnostic criteria for dysmegakaryopoiesis; however, the uniform presence of these findings in this cohort suggests an association with thrombocytopenia and CCUS.
DNMT3A (DNA methyltransferase 1) • NF1 (Neurofibromin 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • CD34 (CD34 molecule)
TET2 mutation • SRSF2 mutation • SRSF2 P95H • SRSF2 P95L
Promacta (eltrombopag) • Nplate (romiplostim)
A Phase 1a/b Dose Escalation Study of the Mutation Agnostic FLT3/BTK Inhibitor Luxeptinib (CG-806) in Patients with Relapsed or Refractory Acute Myeloid Leukemia (ASH 2021)
Luxeptinib simultaneously suppresses additional signaling pathways in AML cells (CSF1R, PDGFRα, TRK, SYK, BTK, LYN, AKT, ERK, MAPK), kills primary AML cells insensitive to other FLT3 inhibitors at pM and low nM concentrations, and shows enhanced activity in combination with venetoclax...One heavily pretreated AML patient (8 prior regimens including alloSCT and FLT3 inhibitors gilteritinib and crenolanib) had 99% reduction of blasts in peripheral blood (from 6.38x10 3 /µL at C1D1 to 0.09x10 3 /µL at C1D15), though the decrease in blasts reversed during Cycle 2...MRD-negative complete remission (CR) was confirmed in one FLT3-ITD AML patient (6 prior regimens including 2 alloSCT and FLT3 inhibitor sorafenib) at Cycle 5 of treatment evidenced by reduction of FLT3-ITD VAF and blasts in bone marrow to below limit of detection (LOD) of PCR-based FLT3-ITD assay and high-sensitivity flow cytometry (LOD < 0.1%), respectively... As of June 7, 2021, luxeptinib is well tolerated at dose levels of 450 and 600 mg BID over multiple cycles and escalated to 750 mg BID (Cohort 3). Pharmacodynamic studies documented inhibition of FLT3 signaling, and anti-leukemic activity has been observed in heavily pretreated relapsed FLT3-ITD AML patients as evidenced by significant reduction of FLT3-ITD VAF and blasts in bone marrow and / or peripheral blood. One FLT3-ITD AML patient has had confirmed MRD negative CR and continues treatment.
Clinical • P1 data
TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • NPM1 (Nucleophosmin 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • SRSF2 (Serine and arginine rich splicing factor 2) • LYN (LYN Proto-Oncogene Src Family Tyrosine Kinase) • GATA2 (GATA Binding Protein 2) • SYK (Spleen tyrosine kinase) • CSF1R (Colony stimulating factor 1 receptor)
TP53 mutation • FLT3-ITD mutation • FLT3 mutation • NPM1 mutation • ASXL1 mutation • TET2 mutation • FLT3 D835Y • FLT3 F691L • PTPN11 mutation • FLT3 D835 • SRSF2 mutation • GATA2 mutation • SRSF2 P95L
Venclexta (venetoclax) • sorafenib • Xospata (gilteritinib) • crenolanib (ARO-002) • luxeptinib (CG-806)