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Oncotarget

DDX41’s Unique Contribution to Myeloid Leukemogenesis

Jul 19, 2024
Researcher Hirotaka Matsui from the National Cancer Center Hospital in Tokyo discusses genetic predisposition in myeloid neoplasms and the role of DDX41 in myeloid leukemogenesis. The podcast explores the unique disease characteristics associated with DDX41 variants.
02:35

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Quick takeaways

  • Genetic predisposition plays a significant role in myeloid neoplasms, with around 10% of cases linked to specific gene variants.
  • DDX41 variants contribute uniquely to myeloid neoplasms, highlighting distinct disease characteristics and pathogenesis.

Deep dives

Genetic Predisposition in Myeloid Neoplasms

Genetic backgrounds playing a role in myeloid neoplasms were previously rare until significant genetic discoveries emerged. Familial platelet disorder and inherited AML links to genes like Runnex1 and CPA were identified around the late 1990s and early 2000s. More recent genetic analyses revealed germline pathogenic variants in genes like ANRD26, ETV6, and GATA2, highlighting genetic predisposition in approximately 10% of myeloid neoplasms. Particularly notable are myeloid neoplasms related to DDX-41 variants for their unique disease characteristics and pathogenesis.

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