| Literature DB >> 25920683 |
Chantana Polprasert1, Isabell Schulze2, Mikkael A Sekeres3, Hideki Makishima4, Bartlomiej Przychodzen4, Naoko Hosono5, Jarnail Singh6, Richard A Padgett6, Xiaorong Gu4, James G Phillips4, Michael Clemente4, Yvonne Parker4, Daniel Lindner4, Brittney Dienes4, Eckhard Jankowsky7, Yogen Saunthararajah4, Yang Du8, Kevin Oakley8, Nhu Nguyen8, Sudipto Mukherjee9, Caroline Pabst10, Lucy A Godley11, Jane E Churpek11, Daniel A Pollyea12, Utz Krug13, Wolfgang E Berdel13, Hans-Ulrich Klein14, Martin Dugas14, Yuichi Shiraishi15, Kenichi Chiba15, Hiroko Tanaka15, Satoru Miyano15, Kenichi Yoshida16, Seishi Ogawa16, Carsten Müller-Tidow17, Jaroslaw P Maciejewski18.
Abstract
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.Entities:
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Year: 2015 PMID： 25920683 PMCID： PMC8713504 DOI： 10.1016/j.ccell.2015.03.017
Source DB: PubMed Journal: Cancer Cell ISSN： 1535-6108 Impact factor: 31.743