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https://www.readbyqxmd.com/read/27913495/germ-line-mutations-associated-with-leukemias
#1
Christopher C Porter
Several genetic syndromes have long been associated with a predisposition to the development of leukemia, including bone marrow failure syndromes, Down syndrome, and Li Fraumeni syndrome. Recent work has better defined the leukemia risk and outcomes in these syndromes. Also, in the last several years, a number of other germ line mutations have been discovered to define new leukemia predisposition syndromes, including ANKRD26, GATA2, PAX5, ETV6, and DDX41 In addition, data suggest that a substantial proportion of patients with therapy related leukemias harbor germ line mutations in DNA damage response genes such as BRCA1/2 and TP53 Recognition of clinical associations, acquisition of a thorough family history, and high index-of-suspicion are critical in the diagnosis of these leukemia predisposition syndromes...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27819178/myelodysplastic-syndromes-and-acute-leukemia-with-genetic-predispositions-a-new-challenge-for-hematologists
#2
Nicolas Duployez, Sophie Lejeune, Aline Renneville, Claude Preudhomme
The determination of an underlying genetic predisposition is not automatically part of the diagnosis of hematological malignancies (HM) in routine practice. However, it is assumed that genetic predispositions to HM are currently underestimated due to great variations in disease phenotype, variable latency and incomplete penetrance. Most of patients do not display any biological or clinical signs besides the overt hematological disease and many of them have a lack of personal or family history of malignancies...
December 2016: Expert Review of Hematology
https://www.readbyqxmd.com/read/27795557/re-emergence-of-acute-myeloid-leukemia-in-donor-cells-following-allogeneic-transplantation-in-a-family-with-a-germline-ddx41-mutation
#3
G Berger, E van den Berg, B Sikkema-Raddatz, K M Abbott, R J Sinke, L B Bungener, A B Mulder, E Vellenga
Leukemia accepted article preview online, 31 October 2016. doi:10.1038/leu.2016.310.
October 31, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27721487/structural-and-functional-analysis-of-ddx41-a-bispecific-immune-receptor-for-dna-and-cyclic-dinucleotide
#4
Hiroki Omura, Daisuke Oikawa, Takanori Nakane, Megumi Kato, Ryohei Ishii, Ryuichiro Ishitani, Fuminori Tokunaga, Osamu Nureki
In the innate immune system, pattern recognition receptors (PRRs) specifically recognize ligands derived from bacteria or viruses, to trigger the responsible downstream pathways. DEAD box protein 41 (DDX41) is an intracellular PRR that triggers the downstream pathway involving the adapter STING, the kinase TBK1, and the transcription factor IRF3, to activate the type I interferon response. DDX41 is unique in that it recognizes two different ligands; i.e., double-stranded DNA (dsDNA) and cyclic dinucleotides (CDN), via its DEAD domain...
October 10, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27502187/the-emerging-roles-of-the-ddx41-protein-in-immunity-and-diseases
#5
Yan Jiang, Yanping Zhu, Zhi-Jie Liu, Songying Ouyang
RNA helicases are involved in almost every aspect of RNA, from transcription to RNA decay. DExD/H-box helicases comprise the largest SF2 helicase superfamily, which are characterized by two conserved RecA-like domains. In recent years, an increasing number of unexpected functions of these proteins have been discovered. They play important roles not only in innate immune response but also in diseases like cancers and chronic hepatitis C. In this review, we summarize the recent literatures on one member of the SF2 superfamily, the DEAD-box protein DDX41...
August 9, 2016: Protein & Cell
https://www.readbyqxmd.com/read/27384852/genetic-predisposition-to-pediatric-myeloid-malignancies
#6
Hideki Muramatsu
Various genetic disorders are known to be associated with cancer predisposition. For example, children with Down syndrome are predisposed to developing acute myeloid leukemia, and those with RASopathies, such as Noonan syndrome, are predisposed to juvenile myelomonocytic leukemia. To date, more than 250 diseases or syndromes have been reported to be associated with the development of pediatric cancers. Recently, the advent of the massive parallel sequencing technique revealed several germline mutations, including RUNX1, CEBPA, GATA2, SRP72, ETV6, and DDX41, which are associated with familial myeloid malignancies...
June 2016: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/27248996/hereditary-predispositions-to-myelodysplastic-syndrome
#7
REVIEW
Sarah A Bannon, Courtney D DiNardo
Myelodysplastic syndromes (MDS) are heterogeneous clonal hematopoietic disorders characterized by ineffective hematopoiesis, bone marrow dysplasia, and peripheral cytopenias. Familial forms of MDS have traditionally been considered rare, especially in adults; however, the increasing availability of somatic and germline genetic analyses has identified multiple susceptibility loci. Bone marrow failure syndromes have been well-described in the pediatric setting, e.g., Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SBS), hallmarked by clinically-recognizable phenotypes (e...
May 30, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27210295/evaluation-of-patients-and-families-with-concern-for-predispositions-to-hematologic-malignancies-within-the-hereditary-hematologic-malignancy-clinic-hhmc
#8
Courtney D DiNardo, Sarah A Bannon, Mark Routbort, Anna Franklin, Maureen Mork, Mary Armanios, Emily M Mace, Jordan S Orange, Meselle Jeff-Eke, Jane E Churpek, Koichi Takahashi, Jeffrey L Jorgensen, Guillermo Garcia-Manero, Steve Kornblau, Alison Bertuch, Hannah Cheung, Kapil Bhalla, Andrew Futreal, Lucy A Godley, Keyur P Patel
INTRODUCTION: Although multiple predispositions to hematologic malignancies exist, evaluations for hereditary cancer syndromes (HCS) are underperformed by most hematologist/oncologists. Criteria for initiating HCS evaluation are poorly defined, and results of genetic testing for hereditary hematologic malignancies have not been systematically reported. PATIENTS AND METHODS: From April 2014 to August 2015, 67 patients were referred to the Hereditary Hematologic Malignancy Clinic (HHMC)...
July 2016: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/27174803/biological-implications-of-somatic-ddx41-p-r525h-mutation-in-acute-myeloid-leukemia
#9
Moe Kadono, Akinori Kanai, Akiko Nagamachi, Satoru Shinriki, Jin Kawata, Koji Iwato, Taiichi Kyo, Kumi Oshima, Akihiko Yokoyama, Takeshi Kawamura, Reina Nagase, Daichi Inoue, Toshio Kitamura, Toshiya Inaba, Tatsuo Ichinohe, Hirotaka Matsui
The DDX41 gene, encoding a DEAD-box type ATP-dependent RNA helicase, is rarely but reproducibly mutated in myeloid diseases. The acquired mutation in DDX41 is highly concentrated at c.G1574A (p.R525H) in the conserved motif VI located at the C-terminus of the helicase core domain where ATP interacts and is hydrolyzed. Therefore, it is likely that the p.R525H mutation perturbs ATPase activity in a dominant-negative manner. In this study, we screened for the DDX41 mutation of CD34-positive tumor cells based on mRNA sequencing and identified the p...
August 2016: Experimental Hematology
https://www.readbyqxmd.com/read/27133828/germline-heterozygous-ddx41-variants-in-a-subset-of-familial-myelodysplasia-and-acute-myeloid-leukemia
#10
S R Cardoso, G Ryan, A J Walne, A Ellison, R Lowe, H Tummala, A Rio-Machin, L Collopy, A Al Seraihi, Y Wallis, P Page, S Akiki, J Fitzgibbon, T Vulliamy, I Dokal
No abstract text is available yet for this article.
October 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/26944477/two-novel-germline-ddx41-mutations-in-a-family-with-inherited-myelodysplasia-acute-myeloid-leukemia
#11
LETTER
Ruijuan Li, Nara Sobreira, P Dane Witmer, Keith W Pratz, Evan M Braunstein
No abstract text is available yet for this article.
June 2016: Haematologica
https://www.readbyqxmd.com/read/26917736/inherited-ddx41-mutations-11-genes-and-counting
#12
COMMENT
Kiran Tawana, Jude Fitzgibbon
No abstract text is available yet for this article.
February 25, 2016: Blood
https://www.readbyqxmd.com/read/26876264/-clinical-and-genetic-background-of-familial-myelodysplasia-and-acute-myeloid-leukemia
#13
REVIEW
Péter Attila Király, Krisztián Kállay, Dóra Marosvári, Gábor Benyó, Anita Szőke, Judit Csomor, Csaba Bödör
Myelodysplastic syndrome and acute myeloid leukaemia are mainly sporadic diseases, however, rare familial cases exist. These disorders are considered rare, but are likely to be more common than currently appreciated, and are characterized by the autosomal dominant mutations of hematopoietic transcription factors. These syndromes have typical phenotypic features and are associated with an increased risk for developing overt malignancy. Currently, four recognized syndromes could be separated: familial acute myeloid leukemia with mutated CEBPA, familial myelodysplastic syndrome/acute myeloid leukemia with mutated GATA2, familial platelet disorder with propensity to myeloid malignancy with RUNX1 mutations, and telomere biology disorders due to mutations of TERC or TERT...
February 21, 2016: Orvosi Hetilap
https://www.readbyqxmd.com/read/26712909/novel-germ-line-ddx41-mutations-define-families-with-a-lower-age-of-mds-aml-onset-and-lymphoid-malignancies
#14
Maya Lewinsohn, Anna L Brown, Luke M Weinel, Connie Phung, George Rafidi, Ming K Lee, Andreas W Schreiber, Jinghua Feng, Milena Babic, Chan-Eng Chong, Young Lee, Agnes Yong, Graeme K Suthers, Nicola Poplawski, Meryl Altree, Kerry Phillips, Louise Jaensch, Miriam Fine, Richard J D'Andrea, Ian D Lewis, Bruno C Medeiros, Daniel A Pollyea, Mary-Claire King, Tom Walsh, Siobán Keel, Akiko Shimamura, Lucy A Godley, Christopher N Hahn, Jane E Churpek, Hamish S Scott
Recently our group and others have identified DDX41 mutations both as germ line and acquired somatic mutations in families with multiple cases of late onset myelodysplastic syndrome (MDS) and/or acute myeloid leukemia (AML), suggesting that DDX41 acts as a tumor suppressor. To determine whether novel DDX41 mutations could be identified in families with additional types of hematologic malignancies, our group screened two cohorts of families with a diverse range of hematologic malignancy subtypes. Among 289 families, we identified nine (3%) with DDX41 mutations...
February 25, 2016: Blood
https://www.readbyqxmd.com/read/26382053/evolution-of-the-dead-box-helicase-family-in-chicken-chickens-have-no-dhx9-ortholog
#15
Haruko Sato, Hiroyuki Oshiumi, Hiromi Takaki, Hirokazu Hikono, Tsukasa Seya
Viral RNA represents a pattern molecule that can be recognized by RNA sensors in innate immunity. Humans and mice possess cytoplasmic DNA/RNA sensors for detecting viral replication. There are a number of DEAD (Asp-Glu-Ala-Asp; DExD/H) box-type helicases in mammals, among which retinoic acid-inducible gene 1 (RIG-I) and melanoma differentiation-associated protein 5 (MDA50) are indispensable for RNA sensing; however, they are functionally supported by a number of sensors that directly bind viral RNA or replicative RNA intermediates to convey signals to RIG-I and MDA5...
October 2015: Microbiology and Immunology
https://www.readbyqxmd.com/read/25965566/functionally-relevant-rna-helicase-mutations-in-familial-and-sporadic-myeloid-malignancies
#16
COMMENT
Iléana Antony-Debré, Ulrich Steidl
In this issue of Cancer Cell, Polprasert and colleagues identified recurrent mutations in the DEAD/H-box RNA helicase gene DDX41 in familial and acquired cases of myelodsyplasia and acute myeloid leukemia. These mutations induce defects in RNA splicing and represent a new class of mutations in myeloid malignancies.
May 11, 2015: Cancer Cell
https://www.readbyqxmd.com/read/25920683/inherited-and-somatic-defects-in-ddx41-in-myeloid-neoplasms
#17
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
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...
May 11, 2015: Cancer Cell
https://www.readbyqxmd.com/read/25907950/-expression-of-helicase-ddx41-in-human-dental-pulp-tissues-and-cells
#18
Xiao-Jun Yang, Jin Hou, Xin-Zhu Li, Jiao Hu
OBJECTIVE: To detect the expression of D-E-A-D-box polypeptide 41 (DDX41) in human dental pulp tissues and cells. METHODS: The mRNA and protein expressions of DDX41 in human dental pulp cells were detected by RT-PCR and immunocytochemistry, and the expression of DDX41 in human dental pulp tissues was investigated by immunohistochemistry. RESULTS: Strong expressions of DDX41 mRNA and protein were detected in dental pulp cells. In dental pulp tissues, DDX41 was expressed in the cytoplasm and nucleus of odontoblasts...
April 2015: Nan Fang Yi Ke da Xue Xue Bao, Journal of Southern Medical University
https://www.readbyqxmd.com/read/25816774/nucleic-acid-recognition-orchestrates-the-anti-viral-response-to-retroviruses
#19
Spyridon Stavrou, Kristin Blouch, Swathi Kotla, Antonia Bass, Susan R Ross
Intrinsic restriction factors and viral nucleic acid sensors are important for the anti-viral response. Here, we show how upstream sensing of retroviral reverse transcripts integrates with the downstream effector APOBEC3, an IFN-induced cytidine deaminase that introduces lethal mutations during retroviral reverse transcription. Using a murine leukemia virus (MLV) variant with an unstable capsid that induces a strong IFNβ antiviral response, we identify three sensors, IFI203, DDX41, and cGAS, required for MLV nucleic acid recognition...
April 8, 2015: Cell Host & Microbe
https://www.readbyqxmd.com/read/25776036/the-cytosolic-sensor-ddx41-activates-antiviral-and-inflammatory-immunity-in-response-to-stimulation-with-double-stranded-dna-adherent-cells-of-the-olive-flounder-paralichthys-olivaceus
#20
Nhu Truong Quynh, Jun-ichi Hikima, Young-rim Kim, Fernand F Fagutao, Mee Sun Kim, Takashi Aoki, Tae Sung Jung
DDX41, a receptor belonging to the DExD family, functions as a DNA sensor in the mammalian cytoplasm and mediates the antiviral response in host cells. Here, the olive flounder DDX41 was found to have 2267-bp long and encodes a putative protein of 614 amino acid residues. The olive flounder DDX41 mRNA was presented in all tested tissues, and was distinctly expressed in fish naturally infected with LCDV. High expression levels were observed in the heart, liver, kidney and stomach. Furthermore, the olive flounder DDX41 mRNA expression increased significantly in adherent (monocyte-like) cells following stimulation with a DNA virus...
June 2015: Fish & Shellfish Immunology
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