Next‐generation sequencing reveals the presence of DDX41 mutations in acute lymphoblastic leukemia and aplastic anemia
Abstract Limited studies have been described DEAD‐box helicase 41 (DDX41) mutations in hematological diseases other than myeloid neoplasms. In this study, DDX41 mutations were identified in 0.8% of myeloid neoplasms, 0.9% of acute lymphoblastic leukemia (ALL), and 1.0% of aplastic anemia (AA). A tot...
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| Format: | Article |
| Language: | English |
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Wiley
2021-08-01
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| Series: | eJHaem |
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| Online Access: | https://doi.org/10.1002/jha2.256 |
| _version_ | 1797740010002186240 |
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| author | Yang Zhang Fang Wang Xue Chen Hong Liu Xiaoliang Wang Jiaqi Chen Panxiang Cao Xiaoli Ma Hongxing Liu |
| author_facet | Yang Zhang Fang Wang Xue Chen Hong Liu Xiaoliang Wang Jiaqi Chen Panxiang Cao Xiaoli Ma Hongxing Liu |
| author_sort | Yang Zhang |
| collection | DOAJ |
| description | Abstract Limited studies have been described DEAD‐box helicase 41 (DDX41) mutations in hematological diseases other than myeloid neoplasms. In this study, DDX41 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 DDX41 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 DDX41 mutation were distinct. This study first reported DDX41 mutations in ALL and AA, expanding its mutation and phenotypic spectrum. |
| first_indexed | 2024-03-12T14:05:27Z |
| format | Article |
| id | doaj.art-1c0725050b744bfab51de3810ef5825b |
| institution | Directory Open Access Journal |
| issn | 2688-6146 |
| language | English |
| last_indexed | 2024-03-12T14:05:27Z |
| publishDate | 2021-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | eJHaem |
| spelling | doaj.art-1c0725050b744bfab51de3810ef5825b2023-08-21T14:10:34ZengWileyeJHaem2688-61462021-08-012350851310.1002/jha2.256Next‐generation sequencing reveals the presence of DDX41 mutations in acute lymphoblastic leukemia and aplastic anemiaYang Zhang0Fang Wang1Xue Chen2Hong Liu3Xiaoliang Wang4Jiaqi Chen5Panxiang Cao6Xiaoli Ma7Hongxing Liu8Divison of Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang ChinaDivison of Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang ChinaDivison of Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang ChinaDivison of Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang ChinaDivison of Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang ChinaDivison of Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang ChinaDivison of Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang ChinaDivison of Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang ChinaDivison of Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang ChinaAbstract Limited studies have been described DEAD‐box helicase 41 (DDX41) mutations in hematological diseases other than myeloid neoplasms. In this study, DDX41 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 DDX41 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 DDX41 mutation were distinct. This study first reported DDX41 mutations in ALL and AA, expanding its mutation and phenotypic spectrum.https://doi.org/10.1002/jha2.256acute lymphoblastic leukemiaaplastic anemiaDDX41 mutationsgenetic predisposition |
| spellingShingle | Yang Zhang Fang Wang Xue Chen Hong Liu Xiaoliang Wang Jiaqi Chen Panxiang Cao Xiaoli Ma Hongxing Liu Next‐generation sequencing reveals the presence of DDX41 mutations in acute lymphoblastic leukemia and aplastic anemia eJHaem acute lymphoblastic leukemia aplastic anemia DDX41 mutations genetic predisposition |
| title | Next‐generation sequencing reveals the presence of DDX41 mutations in acute lymphoblastic leukemia and aplastic anemia |
| title_full | Next‐generation sequencing reveals the presence of DDX41 mutations in acute lymphoblastic leukemia and aplastic anemia |
| title_fullStr | Next‐generation sequencing reveals the presence of DDX41 mutations in acute lymphoblastic leukemia and aplastic anemia |
| title_full_unstemmed | Next‐generation sequencing reveals the presence of DDX41 mutations in acute lymphoblastic leukemia and aplastic anemia |
| title_short | Next‐generation sequencing reveals the presence of DDX41 mutations in acute lymphoblastic leukemia and aplastic anemia |
| title_sort | next generation sequencing reveals the presence of ddx41 mutations in acute lymphoblastic leukemia and aplastic anemia |
| topic | acute lymphoblastic leukemia aplastic anemia DDX41 mutations genetic predisposition |
| url | https://doi.org/10.1002/jha2.256 |
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