Zhang Yang, Wang Fang, Chen Xue, Liu Hong, Wang Xiaoliang, Chen Jiaqi, Cao Panxiang, Ma Xiaoli, Liu Hongxing
Divison of Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang China.
Divison of Laboratory Medicine Beijing Lu Daopei Hospital Beijing China.
EJHaem. 2021 Jun 27;2(3):508-513. doi: 10.1002/jha2.256. eCollection 2021 Aug.
Limited studies have been described DEAD-box helicase 41 ( mutations in hematological diseases other than myeloid neoplasms. In this study, mutations were identified in 0.8% of myeloid neoplasms, 0.9% of acute lymphoblastic leukemia (ALL), and 1.0% of aplastic anemia (AA). A total of 15 causal variants in 14 patients were detected; seven of which have not been reported previously. In myeloid neoplasms, the median age of patients with germline missense was lower than that of germline nonsense mutations. In ALL, the characteristics of mutation were distinct. This study first reported mutations in ALL and AA, expanding its mutation and phenotypic spectrum.
关于DEAD盒解旋酶41（DDX41）在髓系肿瘤以外的血液系统疾病中的突变，相关研究较少。在本研究中，在0.8%的髓系肿瘤、0.9%的急性淋巴细胞白血病（ALL）和1.0%的再生障碍性贫血（AA）中鉴定出了突变。共检测到14例患者的15个致病变异；其中7个此前未被报道。在髓系肿瘤中，生殖系错义突变患者的中位年龄低于生殖系无义突变患者。在ALL中，突变特征有所不同。本研究首次报道了ALL和AA中的DDX41突变，扩展了其突变和表型谱。
