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[Myeloid neoplasms with germline predisposition]
1Division of Cancer Evolution, National Cancer Center Research Institute.
Abstract:
With recent advances in sequencing technologies, novel genes associated with the predisposition to myeloid neoplasms have been discovered, and subsequent studies have shown that the incidence of myeloid neoplasms associated with germline variants is higher than expected. Accordingly, myeloid neoplasms with germline predisposition have represented a unique category in the recent WHO classification and the International Consensus Classification, and DDX41 mutation accounts for 2-5% of myeloid neoplasms. Clonal hematopoiesis commonly occurs in healthy individuals, especially in older people. For patients with germline predisposition, clonal hematopoiesis is frequently observed at a younger age and often associated with disease-specific driver mutations, leading to further understating of the pathogenesis of diseases.
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