对血液恶性肿瘤患者种系 DDX41 变异的认识不断提高，促使我们为诊断、监测和治疗提供针对 DDX41 的具体建议。 DDX41 中的致病性种系变异易于发生髓系肿瘤 (MN)，尤其是骨髓增生异常综合征 (MDS) 和急性髓系白血病 (AML)。几乎 3%-5% 的 MDS 或 AML 患者携带致病性或可能致病性种系 DDX41 变异，而其中一半的人在另一个等位基因中获得体细胞第二次打击。与其他具有种系倾向的血液恶性肿瘤相比，DDX41 相关的 MN 表现出独特的临床特征：MN 大多发生在高龄，并遵循惰性临床过程。男性携带者比女性携带者更容易患 MDS 或 AML。 DDX41 相关的 MN 通常是发育不全的，并且恶性肿瘤发生之前可能会出现血细胞减少。© 2024 作者。约翰·威利 (John Wiley) 出版的 HemaSphere

Increasing recognition of germline DDX41 variants in patients with hematological malignancies prompted us to provide DDX41-specific recommendations for diagnosis, surveillance, and treatment. Causative germline variants in the DDX41 predispose to the development of myeloid neoplasms (MNs), especially myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Almost 3%-5% of all patients with MDS or AML carry a pathogenic or likely pathogenic germline DDX41 variant, while half of them acquire a somatic second hit in the other allele. DDX41-associated MNs exhibit unique clinical characteristics compared to other hematological malignancies with germline predisposition: MNs occur mostly at advanced age and follow an indolent clinical course. Male carriers are more prone to develop MDS or AML than females. DDX41-associated MN is often hypoplastic, and the malignancy may be preceded by cytopenias.© 2024 The Author(s). HemaSphere published by John Wiley & Sons Ltd on behalf of European Hematology Association.