- Genetic predisposition plays a significant role in myeloid neoplasms, with approximately 10% of cases having a genetic background.
- RUNX1 and CEBPA were identified as causative genes for familial platelet disorder with a predisposition to AML.
- Comprehensive genetic analysis has led to the discovery of germline pathogenic variants in genes like ANKRD26, ETV6, and GATA2 in patients with myeloid neoplasms.
- The editorial paper by Hirotaka Matsui discusses DDX41 variants’ unique contribution to myeloid leukemogenesis.
- Myeloid neoplasms caused by DDX41 variants stand out due to their distinct disease phenotype and pathogenesis.
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Oncology