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Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms.
Polprasert, Chantana; Schulze, Isabell; Sekeres, Mikkael A; Makishima, Hideki; Przychodzen, Bartlomiej; Hosono, Naoko; Singh, Jarnail; Padgett, Richard A; Gu, Xiaorong; Phillips, James G; Clemente, Michael; Parker, Yvonne; Lindner, Daniel; Dienes, Brittney; Jankowsky, Eckhard; Saunthararajah, Yogen; Du, Yang; Oakley, Kevin; Nguyen, Nhu; Mukherjee, Sudipto; Pabst, Caroline; Godley, Lucy A; Churpek, Jane E; Pollyea, Daniel A; Krug, Utz; Berdel, Wolfgang E; Klein, Hans-Ulrich; Dugas, Martin; Shiraishi, Yuichi; Chiba, Kenichi; Tanaka, Hiroko; Miyano, Satoru; Yoshida, Kenichi; Ogawa, Seishi; Müller-Tidow, Carsten; Maciejewski, Jaroslaw P.
Afiliação
  • Polprasert C; Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA; Department of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.
  • Schulze I; Department of Hematology and Oncology, University of Halle, Halle 06108, Germany; Department of Hematology and Oncology, University of Muenster, Muenster 48149, Germany.
  • Sekeres MA; Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA; Leukemia Program, Cleveland Clinic, Taussig Cancer Institute, Cleveland, OH 44195, USA.
  • Makishima H; Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
  • Przychodzen B; Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
  • Hosono N; Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA; First Department of Internal Medicine, Faculty of Medical Sciences, University of Fukui, Fukui 910-8507, Japan.
  • Singh J; Department of Molecular Genetics, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA.
  • Padgett RA; Department of Molecular Genetics, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA.
  • Gu X; Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
  • Phillips JG; Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
  • Clemente M; Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
  • Parker Y; Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
  • Lindner D; Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
  • Dienes B; Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
  • Jankowsky E; Department of Biochemistry, Case Western Reserve University, Cleveland, OH 44106, USA.
  • Saunthararajah Y; Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA.
  • Du Y; Department of Pediatrics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA.
  • Oakley K; Department of Pediatrics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA.
  • Nguyen N; Department of Pediatrics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA.
  • Mukherjee S; Leukemia Program, Cleveland Clinic, Taussig Cancer Institute, Cleveland, OH 44195, USA.
  • Pabst C; Department of Hematology and Oncology, University of Halle, Halle 06108, Germany.
  • Godley LA; Department of Medicine, Comprehensive Cancer Center and Center for Clinical Cancer Genetics, University of Chicago, Chicago, IL 60637, USA.
  • Churpek JE; Department of Medicine, Comprehensive Cancer Center and Center for Clinical Cancer Genetics, University of Chicago, Chicago, IL 60637, USA.
  • Pollyea DA; University of Colorado School of Medicine and University of Colorado Cancer Center, Aurora, CO 80045, USA.
  • Krug U; Department of Hematology and Oncology, University of Muenster, Muenster 48149, Germany.
  • Berdel WE; Department of Hematology and Oncology, University of Muenster, Muenster 48149, Germany.
  • Klein HU; Institute of Medical Informatics, University of Muenster, Muenster 48149, Germany.
  • Dugas M; Institute of Medical Informatics, University of Muenster, Muenster 48149, Germany.
  • Shiraishi Y; Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo 113-8654, Japan.
  • Chiba K; Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo 113-8654, Japan.
  • Tanaka H; Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo 113-8654, Japan.
  • Miyano S; Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo 113-8654, Japan.
  • Yoshida K; Department of Pathology and Tumor Biology, Kyoto University, Kyoto 606-8501, Japan.
  • Ogawa S; Department of Pathology and Tumor Biology, Kyoto University, Kyoto 606-8501, Japan.
  • Müller-Tidow C; Department of Hematology and Oncology, University of Halle, Halle 06108, Germany; Department of Hematology and Oncology, University of Muenster, Muenster 48149, Germany. Electronic address: carsten.mueller-tidow@uk-halle.de.
  • Maciejewski JP; Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA; Leukemia Program, Cleveland Clinic, Taussig Cancer Institute, Cleveland, OH 44195, USA. Electronic address: maciejj@ccf.org.
Cancer Cell ; 27(5): 658-70, 2015 May 11.
Article em En | MEDLINE | ID: mdl-25920683
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Leucemia Mieloide Aguda / Mutação em Linhagem Germinativa / RNA Helicases DEAD-box Limite: Aged / Aged80 / Animals / Female / Humans / Male / Middle aged Idioma: En Revista: Cancer Cell Assunto da revista: NEOPLASIAS Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Tailândia
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Leucemia Mieloide Aguda / Mutação em Linhagem Germinativa / RNA Helicases DEAD-box Limite: Aged / Aged80 / Animals / Female / Humans / Male / Middle aged Idioma: En Revista: Cancer Cell Assunto da revista: NEOPLASIAS Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Tailândia