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    BIOMARKER:

    DDX41 mutation

    i
    Other names: DDX41, DEAD-Box Helicase 41, ABS, DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 41, Probable ATP-Dependent RNA Helicase DDX41, DEAD Box Protein Abstrakt Homolog, DEAD Box Protein 41, Abstrakt, MGC8828, DEAD-Box Protein Abstrakt, Putative RNA Helicase, MPLPF
    Entrez ID:
    51428
    12d
    Current Understanding of DDX41 Mutations in Myeloid Neoplasms. (PubMed, Cancers (Basel))
    Still, there is a gap in knowledge on whether germline DDX41 mutations and its pathology features can be targetable for treatment, and what constitutes an appropriate screening/surveillance strategy for identified carriers. This article reviews our current understanding of DDX41 mutations in myeloid neoplasms in pathologic and clinical features and their clinical implications.
    Review • Journal
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    DDX41 (DEAD-Box Helicase 41)
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    DDX41 mutation
    3ms
    Clinical and mechanistic insights into the roles of DDX41 in hematological malignancies. (PubMed, FEBS Lett)
    We then cover the known cellular functions of DDX41, spanning from its discovery in Drosophila as a neuroregulator through its more recently described roles in inflammatory signaling, R-loop metabolism, and snoRNA processing. We end with a summary of the identified basic functions of DDX41 that when perturbed may contribute to the underlying pathology of hematologic neoplasms.
    Review • Journal
    |
    DDX41 (DEAD-Box Helicase 41)
    |
    DDX41 mutation
    3ms
    Evaluating Stem Cells to Predict Post-Transplant Relapse in the Myelodysplastic Syndromes (ASH 2022)
    Validation of this assay in larger cohorts promises to yield a tool to identify patients who may benefit from early post-transplant interventions to forestall relapse. We also demonstrate how this assay can reveal novel insights into human disease HSC biology.
    IO biomarker
    |
    TP53 (Tumor protein P53) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • ASXL1 (ASXL Transcriptional Regulator 1) • CD38 (CD38 Molecule) • CD34 (CD34 molecule) • DDX41 (DEAD-Box Helicase 41)
    |
    TP53 mutation • ASXL1 mutation • DDX41 mutation • DNMT3A R882H • IDH2 R140Q • TP53 Y220C • DNMT3A R882
    3ms
    DNA Methylation Profiles Capture Clinical and Molecular Heterogeneity of MDS and Can be Harnessed for the Development of Robust Biomarkers Predictive of Response to Azacitidine (ASH 2022)
    This epigenetic information can be harnessed for the development of robust biomarkers predictive of AZA response. Importantly, integrative approaches combining GE and DNAme data can further improve the predictive performance of these biomarkers.
    Clinical • Epigenetic controller
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    TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • SF3B1 (Splicing Factor 3b Subunit 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • STAG2 (Stromal Antigen 2) • CD34 (CD34 molecule) • DDX41 (DEAD-Box Helicase 41) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)
    |
    TP53 mutation • DNMT3A mutation • ASXL1 mutation • SF3B1 mutation • SRSF2 mutation • U2AF1 mutation • STAG2 mutation • DDX41 mutation
    |
    azacitidine
    3ms
    Detection of Novel Occult Germline Multi-Exon Deletions in Patients with DDX41 Familial Predisposition to Myeloid Malignancy (ASH 2022)
    These clinically relevant data highlight the importance of using dedicated bioinformatics processes or alternative assays that may detect such abnormalities (e.g. MLPA) when assessing DDX41 in the clinic. Future studies should further assess non-coding/regulatory regions in order to fully understand the spectrum of variants causative of germline DDX41 predisposition to myeloid malignancy.
    Clinical
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    DNMT3A (DNA methyltransferase 1) • ASXL1 (ASXL Transcriptional Regulator 1) • SRSF2 (Serine and arginine rich splicing factor 2) • DDX41 (DEAD-Box Helicase 41)
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    DNMT3A mutation • SRSF2 mutation • DDX41 mutation
    3ms
    Germline Risks and Clinical Impacts of DDX41 Mutations in Myeloid Malignancies (ASH 2022)
    DDX41mut MNs have distinct genetic and clinical/hematological features, representing a unique subset of MNs. IPSS-R/IPSS-M prognostication may not be applied to DDX41mut MDS.
    Clinical
    |
    TP53 (Tumor protein P53) • CUX1 (cut like homeobox 1) • DDX41 (DEAD-Box Helicase 41)
    |
    TP53 mutation • DDX41 mutation • CUX1 mutation