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 Mukherjee; Caroline 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

doi:10.1016/j.ccell.2015.03.017

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Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms

Journal article

Open access

Peer reviewed

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, …

Cancer cell, Vol.27(5), pp.658-670

2015-05-11

DOI: https://doi.org/10.1016/j.ccell.2015.03.017

PMID: 25920683

Abstract

Aged

Aged, 80 and over

Amino Acid Sequence

Animals

DEAD-box RNA Helicases - chemistry

DEAD-box RNA Helicases - genetics

Female

Germ-Line Mutation

Humans

Leukemia, Myeloid, Acute - genetics

Male

Middle Aged

Molecular Sequence Data

Pedigree

RNA Splicing

Sequence Homology, Amino Acid

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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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.103 Blood Disorders; 1.103.155 Acute Myeloid Leukemia
Web Of Science research areas: Cell Biology; Oncology
ESI research areas: Molecular Biology & Genetics

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Title: Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms
Creators: Chantana Polprasert - Chulalongkorn University
Isabell Schulze - Department of Hematology and Oncology, University of Halle, Halle 06108, Germany; Department of Hematology and Oncology, University of Muenster, Muenster 48149, Germany.
Mikkael A Sekeres - Cleveland Clinic
Hideki Makishima - Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
Bartlomiej Przychodzen - Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
Naoko Hosono - University of Fukui
Jarnail Singh - Cleveland Clinic
Richard A Padgett - Cleveland Clinic
Xiaorong Gu - Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
James G Phillips - Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
Michael Clemente - Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
Yvonne Parker - Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
Daniel Lindner - Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
Brittney Dienes - Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
Eckhard Jankowsky - Case Western Reserve University
Yogen Saunthararajah - Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
Yang Du - Uniformed Services University of the Health Sciences
Kevin Oakley - Uniformed Services University of the Health Sciences
Nhu Nguyen - Uniformed Services University of the Health Sciences
Sudipto Mukherjee - Cleveland Clinic
Caroline Pabst - Martin Luther University Halle-Wittenberg
Lucy A Godley - University of Chicago
Jane E Churpek - University of Chicago
Daniel A Pollyea - University of Colorado Cancer Center
Utz Krug - University of Münster
Wolfgang E Berdel - University of Münster
Hans-Ulrich Klein - Institute of Medical Informatics, University of Muenster, Muenster 48149, Germany.
Martin Dugas - Institute of Medical Informatics, University of Muenster, Muenster 48149, Germany.
Yuichi Shiraishi - The University of Tokyo
Kenichi Chiba - The University of Tokyo
Hiroko Tanaka - The University of Tokyo
Satoru Miyano - The University of Tokyo
Kenichi Yoshida - Kyoto University
Seishi Ogawa - Kyoto University
Carsten Müller-Tidow - Martin Luther University Halle-Wittenberg
Jaroslaw P Maciejewski - Cleveland Clinic
Publication Details: Cancer cell, Vol.27(5), pp.658-670
Grant note: 2K24HL077522 / NHLBI NIH HHS R01 CA143193 / NCI NIH HHS K24 HL077522 / NHLBI NIH HHS R01HL118281 / NHLBI NIH HHS R01CA143193 / NCI NIH HHS R01 HL118281 / NHLBI NIH HHS
Academic Unit: Miller School of Medicine; UMMG Dept of Medicine - Hematology/Oncology
Language: English
Resource Type: Journal article
PMID: 25920683
Record Identifier: 991031757781202976