Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms

Chantana Polprasert, Isabell Schulze, Mikkael A. Sekeres, Hideki Makishima, Bartlomiej Przychodzen, Naoko Hosono, Jarnail Singh, Richard A. Padgett, Xiaorong Gu, James G. Phillips, Michael Clemente, Yvonne Parker, Daniel Lindner, Brittney Dienes, Eckhard Jankowsky, Yogen Saunthararajah, Yang Du, Kevin Oakley, Nhu Nguyen, Sudipto MukherjeeCaroline Pabst, Lucy A. Godley, Jane E. Churpek, Daniel A. Pollyea, Utz Krug, Wolfgang E. Berdel, Hans Ulrich Klein, Martin Dugas, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Kenichi Yoshida, Seishi Ogawa, Carsten Müller-Tidow*, Jaroslaw P. Maciejewski

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

274 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)658-670
Number of pages13
JournalCancer cell
Issue number5
StatePublished - May 11 2015

ASJC Scopus subject areas

  • Oncology
  • Cancer Research
  • Cell Biology


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