期刊
CANCER CELL
卷 27, 期 5, 页码 658-670出版社
CELL PRESS
DOI: 10.1016/j.ccell.2015.03.017
关键词
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资金
- MDS Foundation
- NIH [2K24HL077522, R01HL118281, R01CA143193]
- Scott Hamilton CARES grant
- AA&MDS Int. Foundation
- project for the development of innovative research on cancer therapies (p-direct)
- Deutsche Forschungsgemeinschaft (DFG)
- Deutsche Krebshilfe
- Jose Carreras Leukamie-Stiftung
Most cases of adult myeloid neoplasms are routinely assumed to be sporadic. Here, we describe an adult familial acute myeloid leukemia (AML) syndrome caused by germline mutations in the DEAD/H-box helicase gene DDX41. DDX41 was also found to be affected by somatic mutations in sporadic cases of myeloid neoplasms as well as in a biallelic fashion in 50% of patients with germline DDX41 mutations. Moreover, corresponding deletions on 5q35.3 present in 6% of cases led to haploinsufficient DDX41 expression. DDX41 lesions caused altered pre-mRNA splicing and RNA processing. DDX41 is exemplary of other RNA helicase genes also affected by somatic mutations, suggesting that they constitute a family of tumor suppressor genes.
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