Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/107418
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Type: Journal article
Title: Myeloid neoplasms with germline DDX41 mutation
Author: Cheah, J.
Hahn, C.
Hiwase, D.
Scott, H.
Brown, A.
Citation: International Journal of Hematology, 2017; 106(2):163-174
Publisher: Springer Japan
Issue Date: 2017
ISSN: 0925-5710
1865-3774
Statement of
Responsibility: 
Jesse J. C. Cheah, Christopher N. Hahn, Devendra K. Hiwase, Hamish S. Scott, Anna L. Brown
Abstract: Recently, DDX41 mutations have been identified both as germline and acquired somatic mutations in families with multiple cases of late-onset myelodysplastic syndrome (MDS) and/or acute myeloid leukemia. The majority of germline mutations are frameshift mutations suggesting loss of function with DDX41 acting as a tumor suppressor, and there is a common somatic missense mutation found in a majority of germline mutated tumors. Clinically, DDX41 mutations lead to development of high-risk MDS at an age similar to that observed in sporadic cohorts, presenting a unique challenge to hematologists in recognizing the familial context. Functionally, DDX41 has been shown to contribute to multiple pathways and processes including mRNA splicing, innate immunity and rRNA processing. Mutations in DDX41 result in aberrations to each of these in ways that could potentially impact on tumorigenesis-initiation, maintenance or progression. This review discusses the various molecular, clinical and biological aspects of myeloid malignancy predisposition due to DDX41 mutation and highlights how each of these suggest potential therapeutic opportunities through the use of pathway-specific inhibitors.
Keywords: DDX41; Myeloid malignancy; Myelodysplastic syndrome; Acute myeloid leukemia; Germline mutation; Predisposition
Description: Published online: 25 May 2017
Rights: © The Japanese Society of Hematology 2017
RMID: 0030070435
DOI: 10.1007/s12185-017-2260-y
Grant ID: http://purl.org/au-research/grants/nhmrc/1086302
http://purl.org/au-research/grants/nhmrc/1024215
http://purl.org/au-research/grants/nhmrc/1023059
Appears in Collections:Medicine publications

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