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Purpose of the review <p>To sumarize, provide an overview, and critically assess the currently available literature pertaining to the detection, management, and prognosis of <i>DDX41</i> germline predisposition syndrome and related myeloid neoplasms. </p> Recent findings <p><i>DDX41</i>-germline predisposition syndrome is associated with an increased risk of cytopenias, myelodysplastic syndrome, and acute leukemia. Its association with other hematologic and solid malignancies is evolving. Prognosis needs to be further refined in the context of co-mutations and variant location, especially since conventional prognostic models are not accurate in predicting risk. Management strategies can range from active surveillance to allogeneic hematopoietic stem cell transplantation. </p> Summary <p><i>DDX41</i> germline predisposition syndrome represent a distinct biological and clinical entity. Future research should focus on better understanding the patterns of disease progression and timing of therapeutic strategies to optimize clinical outcomes. </p>

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Germline DDX41 Variants: Current Understanding and Future Directions

  • 期刊论文

  • 发表日期：

    2026年4月23日

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  • Aldo A. Acosta-Medina,
  • Abhishek A. Mangaonkar

摘要

Purpose of the review

To sumarize, provide an overview, and critically assess the currently available literature pertaining to the detection, management, and prognosis of DDX41 germline predisposition syndrome and related myeloid neoplasms.

Recent findings

DDX41-germline predisposition syndrome is associated with an increased risk of cytopenias, myelodysplastic syndrome, and acute leukemia. Its association with other hematologic and solid malignancies is evolving. Prognosis needs to be further refined in the context of co-mutations and variant location, especially since conventional prognostic models are not accurate in predicting risk. Management strategies can range from active surveillance to allogeneic hematopoietic stem cell transplantation.

Summary

DDX41 germline predisposition syndrome represent a distinct biological and clinical entity. Future research should focus on better understanding the patterns of disease progression and timing of therapeutic strategies to optimize clinical outcomes.