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    GENE:

    DDX41 (DEAD-Box Helicase 41)

    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
    5d
    Refinement of the classification of DDX41 variants through analysis of aggregated clinical datasets. (PubMed, Leukemia)
    These results were integrated into an online tool to facilitate the consistent application of criteria. Overall, this comprehensive analysis of DDX41-ASC provides an evidence framework to inform the development of DDX41-specific curation guidelines.
    Journal
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    DDX41 (DEAD-Box Helicase 41)
    11d
    DDX41 facilitates PD-L1-mediated immune escape in OSCC via the phase separation and activation STING pathway. (PubMed, NPJ Precis Oncol)
    Finally, clinical sample analysis revealed that DDX41 expression is associated with poor prognosis in OSCC patients and correlates with downstream proteins. Our results identify a novel mechanism by which DDX41, functioning as a cytosolic DNA sensor, promotes PD-L1-mediated tumor immune escape in OSCC via sustaining the STING-TBK1-NF-κB signaling pathway, providing both a potential therapeutic target and diagnostic indicator for this malignancy.
    Journal • PD(L)-1 Biomarker • IO biomarker
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    PD-L1 (Programmed death ligand 1) • STING (stimulator of interferon response cGAMP interactor 1) • DDX41 (DEAD-Box Helicase 41)
    17d
    LEAH: Cohort Evaluation of Body Fluids Early Detection of Cancer in High-risk Individuals (clinicaltrials.gov)
    P=N/A, N=5909, Not yet recruiting, Gustave Roussy, Cancer Campus, Grand Paris | Initiation date: Jun 2025 --> Feb 2026
    Trial initiation date
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    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • POLE (DNA Polymerase Epsilon) • RUNX1 (RUNX Family Transcription Factor 1) • BAP1 (BRCA1 Associated Protein 1) • ETV6 (ETS Variant Transcription Factor 6) • MLH1 (MutL homolog 1) • CDK4 (Cyclin-dependent kinase 4) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • CDH1 (Cadherin 1) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • POLD1 (DNA Polymerase Delta 1) • RAD51C (RAD51 paralog C) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • RAD51D (RAD51 paralog D) • DDX41 (DEAD-Box Helicase 41) • GATA2 (GATA Binding Protein 2) • DICER1 (Dicer 1 Ribonuclease III) • FLCN (Folliculin) • PRSS1 (Serine Protease 1) • SDHD (Succinate Dehydrogenase Complex Subunit D) • TXNIP (Thioredoxin Interacting Protein) • ANKRD26 (Ankyrin Repeat Domain Containing 26) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) • HOXB13 (Homeobox B13)
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    TP53 mutation • PTEN deletion
    17d
    Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis. (PubMed, medRxiv)
    The dysregulated pathways chiefly involved cell morphogenesis and junction formation, consistent with immunohistological analyses of widespread architectural disruption and nuclear disorganization, identifying MCs as a site of dysfunction. Together, these findings establish for the first time the involvement of DDX41 in LCA/EOSRD and provide new insights into the role of helicases in retinal homeostasis.
    Journal
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    DDX41 (DEAD-Box Helicase 41)
    21d
    CPX-351 Selectively Benefits Patients with AML and Myelodysplasia-Related Mutations in the Pivotal Randomized Trial. (PubMed, Blood Adv)
    The OS benefit of CPX-351 observed in the trial was driven by AML-MR with no benefit of CPX-351 in TP53-AML, where the primary prognostic factor was allelic state. Clinical Trial Information: NCT01696084.
    Journal
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    TP53 (Tumor protein P53) • DDX41 (DEAD-Box Helicase 41)
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    TP53 mutation
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    Vyxeos (cytarabine/daunorubicin liposomal formulation)
    2ms
    How to Read a Next-Generation Sequencing Report for AML and MDS? What Hematologists Need to Know. (PubMed, J Clin Med)
    Furthermore, we discuss how NGS findings may influence diagnosis, prognostic classification, and therapeutic decision-making within current clinical frameworks. Our aim is to provide a comprehensive overview of NGS fundamentals to support clinicians in navigating the increasing complexity of molecular data in daily practice.
    Review • Journal • Next-generation sequencing
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    TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • DDX41 (DEAD-Box Helicase 41) • GATA2 (GATA Binding Protein 2)
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    TP53 mutation • ASXL1 mutation
    2ms
    Low Rate of Germline Investigation for Variants of Suspected Germline Origin Detected During the Diagnostic Work-Up of Myeloid Neoplasms. (PubMed, EJHaem)
    Our study underscores the need for further awareness regarding germline investigation for hematological malignancies. Trial Registration: The authors have confirmed clinical trial registration is not needed for this submission.
    Journal
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    TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • RUNX1 (RUNX Family Transcription Factor 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • DDX41 (DEAD-Box Helicase 41)
    3ms
    DDX41-mutant myeloid neoplasms defy current prognostic schemes and require a dedicated risk scoring system: a multicenter, retrospective study. (PubMed, Leukemia)
    We here show that current prognostic tools are not able to adequately assess leukemic evolution and survival outcomes in DDX41-mutant MN. Additional risk factors inherent to this MN subentity hold a prognostic significance beyond the consideration of traditional disease-specific variables, substantiating the need for a dedicated risk scoring system.
    Retrospective data • Journal
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    DDX41 (DEAD-Box Helicase 41)
    3ms
    Clinical and Molecular Spectrum of DDX41 Variants in Korean Patients with Hematologic Malignancies. (PubMed, J Clin Med)
    This study demonstrates ethnic-specific DDX41 variant patterns in Korean myeloid neoplasm patients, with biallelic alterations potentially involved in early leukemogenesis. These findings provide further insight into the unique features of DDX41-associated myeloid neoplasms.
    Journal
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    DNMT3A (DNA methyltransferase 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • DDX41 (DEAD-Box Helicase 41)
    4ms
    Oncogenic DEAD-box ATPase DDX41 establishes transcript ensembles via CLK3-dependent and -independent mechanisms. (PubMed, Nat Commun)
    Loss-of-function analysis revealed DDX41-regulated splicing commonly, but not always, required CLK3. Thus, through a mechanism utilizing a splicing factor kinase that itself is DDX41-regulated, DDX41 establishes transcript ensembles in myeloid progenitors.
    Journal
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    DDX41 (DEAD-Box Helicase 41) • CDK1 (Cyclin-dependent kinase 1)