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    BIOMARKER:

    IDH2 mutation + SRSF2 mutation

    i
    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, IDH2, Isocitrate Dehydrogenase (NADP(+)) 2, Isocitrate Dehydrogenase (NADP(+)) 2, Mitochondrial, Isocitrate Dehydrogenase 2 (NADP+), Mitochondrial, Isocitrate Dehydrogenase [NADP], Mitochondrial, Oxalosuccinate Decarboxylase, NADP(+)-Specific ICDH, IC
    Entrez ID:
    3418; 6427
    Related biomarkers:
    Expression
    Mutation
    Others
    over1year
    Severe Systemic Auto-Inflammation in an Elderly Woman with Clonal Hematopoiesis (AMP Europe 2023)
    The discovery of clonal hematopoiesis in this elderly woman with a wide spectrum of severe auto-inflammatory conditions supports a potentially intriguing link between somatic blood mutations and her adult- onset rheumatologic disorders. Mechanistically, disrupted SRSF2-mediated splicing may be driving aberrant antigen presentation by bone marrow-derived dendritic cells in her skin and other organs. Causal relationships between somatic blood mutations and autoimmune/auto-inflammatory conditions have been established in patients with hematologic malignancies and conditions like VEXAS syndrome.
    Clinical
    |
    MAP2K1 (Mitogen-activated protein kinase kinase 1) • SRSF2 (Serine and arginine rich splicing factor 2)
    |
    IDH2 mutation • SRSF2 mutation • MAP2K1 C121S • IDH2 R140Q • SRSF2 P95L • IDH2 mutation + SRSF2 mutation
    |
    Oncomine Focus Assay • Oncomine Myeloid Assay GX • TruSight Myeloid Sequencing Panel
    over1year
    RUNX1-mutated familial platelet disorder (RUNX1-FPD) with associated acute myeloid leukaemia – a case/family series (ISTH 2023)
    Three family members had pre-existing mild thrombocytopaenia of 100-110x109/l, with normal sized platelets on blood smear examination. They were registered at the local haemophilia centre with a mild platelet function defect requiring tranexamic acid and/or platelet transfusions for procedures. Platelet aggregometry showed normal response to ristocetin 1.25mg/ml, a reduced slope and disaggregation to arachidonic acid, epinephrine and collagen, with no demonstrable release to adenosine diphosphate (ADP).
    Clinical
    |
    IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • RUNX1 (RUNX Family Transcription Factor 1) • SRSF2 (Serine and arginine rich splicing factor 2)
    |
    RUNX1 mutation • SRSF2 mutation • IDH2 mutation + SRSF2 mutation
    over2years
    DNMT3A R882 Mutations Confer Unique Clinicopathologic Features in MDS Including a High Risk of AML Transformation. (PubMed, Front Oncol)
    Interestingly the higher risk of AML transformation and the worse PFS in DNMT3A R882 mutant MDS cases are mitigated by coexisting SF3B1 or SRSF2 mutations. The unique clinicopathologic features of DNMT3A R882 mutant MDS shed light on the prognostic and therapeutic implications of DNMT3A R882 mutations.
    Journal
    |
    IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • SF3B1 (Splicing Factor 3b Subunit 1) • SRSF2 (Serine and arginine rich splicing factor 2)
    |
    IDH2 mutation • DNMT3A mutation • SRSF2 mutation • DNMT3A R882 • IDH2 mutation + SRSF2 mutation
    almost3years
    DNMT3A R882 Mutations Confer Unique Clinicopathologic Features in MDS Including a High Risk of AML Transformation (USCAP 2022)
    The unique clinicopathologic features of DNMT3A R882 mutant MDS shed light on the specific prognostic and therapeutic implications of DNMT3A R882 mutations.
    Clinical
    |
    IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • SF3B1 (Splicing Factor 3b Subunit 1) • SRSF2 (Serine and arginine rich splicing factor 2)
    |
    IDH2 mutation • DNMT3A mutation • SRSF2 mutation • DNMT3A R882 • IDH2 mutation + SRSF2 mutation