Literature DB >> 32307695

Molecular and clinical features of myeloid neoplasms with somatic DDX41 mutations.

Shiqiang Qu1,2,3, Bing Li1,2,3, Tiejun Qin1,2, Zefeng Xu1,2,3, Lijuan Pan1,2, Naibo Hu1,2, Gang Huang4, Robert Peter Gale5, Zhijian Xiao1,2,3.   

Abstract

We screened 47 subjects with DDX41 variants among 1529 subjects with myeloid neoplasms. The most common germline variants included Splice c.935 + 4A>T, p.T360Ifs*33, p.V152G, p.S217Ifs*4, p.R311* and p.R369*. Except for the p.R369*, no other variants have been previously reported. Clinical covariates of subjects with simple DDX41 somatic variants and germline/somatic biallelic variants are similar. The two-year overall survival (OS) of subjects with DDX41 variants was 85%. Overall response rate to demethylation therapy in subjects with DDX41 variants was 69%. The response did not correlate with the presence of a germline variant.
© 2020 British Society for Haematology and John Wiley & Sons Ltd.

Entities:  

Keywords:  DDX41 variants; demethylation therapy; genetic predisposition; myelodysplastic syndromes

Mesh：

Substances：

Year:  2020        PMID： 32307695      PMCID： PMC9205684          DOI： 10.1111/bjh.16668

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   8.615


  13 in total

1.  DDX41 mutations in myeloid neoplasms are associated with male gender, TP53 mutations and high-risk disease.

Authors:  Andrés E Quesada; Mark J Routbort; Courtney D DiNardo; Carlos E Bueso-Ramos; Rashmi Kanagal-Shamanna; Joseph D Khoury; Beenu Thakral; Zhuang Zuo; C Cameron Yin; Sanam Loghavi; Chi Y Ok; Sa A Wang; Zhenya Tang; Sarah A Bannon; Christopher B Benton; Guillermo Garcia-Manero; Hagop Kantarjian; Rajyalakshmi Luthra; L Jeffrey Medeiros; Keyur P Patel
Journal:  Am J Hematol       Date:  2019-05-07       Impact factor: 10.047

2.  Successful lenalidomide treatment in high risk myelodysplastic syndrome with germline DDX41 mutation.

Authors:  Iman Abou Dalle; Hagop Kantarjian; Sarah A Bannon; Rashmi Kanagal-Shamanna; Mark Routbort; Keyur P Patel; Shimin Hu; Kapil Bhalla; Guillermo Garcia-Manero; Courtney D DiNardo
Journal:  Am J Hematol       Date:  2019-08-29       Impact factor: 10.047

3.  Germline DDX41 mutations define a significant entity within adult MDS/AML patients.

Authors:  Marie Sébert; Marie Passet; Anna Raimbault; Ramy Rahmé; Emmanuel Raffoux; Flore Sicre de Fontbrune; Marco Cerrano; Samuel Quentin; Nadia Vasquez; Mélanie Da Costa; Nicolas Boissel; Hervé Dombret; Régis Peffault de Latour; Gérard Socié; Raphaël Itzykson; Pierre Fenaux; Jean Soulier; Lionel Adès; Emmanuelle Clappier
Journal:  Blood       Date:  2019-10-24       Impact factor: 22.113

4.  Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.

Authors:  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
Journal:  Blood       Date:  2015-12-28       Impact factor: 22.113

Review 5.  Myeloid neoplasms with germline DDX41 mutation.

Authors:  Jesse J C Cheah; Christopher N Hahn; Devendra K Hiwase; Hamish S Scott; Anna L Brown
Journal:  Int J Hematol       Date:  2017-05-25       Impact factor: 2.490

Review 6.  The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.

Authors:  Daniel A Arber; Attilio Orazi; Robert Hasserjian; Jürgen Thiele; Michael J Borowitz; Michelle M Le Beau; Clara D Bloomfield; Mario Cazzola; James W Vardiman
Journal:  Blood       Date:  2016-04-11       Impact factor: 22.113

7.  Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia.

Authors:  Ruijuan Li; Nara Sobreira; P Dane Witmer; Keith W Pratz; Evan M Braunstein
Journal:  Haematologica       Date:  2016-03-04       Impact factor: 9.941

8.  Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms.

Authors:  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
Journal:  Cancer Cell       Date:  2015-04-23       Impact factor: 31.743

9.  Clinical features and biological implications of different U2AF1 mutation types in myelodysplastic syndromes.

Authors:  Bing Li; Jinqin Liu; Yujiao Jia; Jingya Wang; Zefeng Xu; Tiejun Qin; Zhongxun Shi; Zhen Song; Shuailing Peng; Huijun Huang; Liwei Fang; Hongli Zhang; Lijuan Pan; Naibo Hu; Shiqiang Qu; Yue Zhang; Jian Wu; Na Liu; Kun Ru; Gang Huang; Zhijian Xiao
Journal:  Genes Chromosomes Cancer       Date:  2017-11-23       Impact factor: 4.263

10.  Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia.

Authors:  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
Journal:  Leukemia       Date:  2016-06-02       Impact factor: 11.528
View more
  8 in total

1.  DDX41 is required for cGAS-STING activation against DNA virus infection.

Authors:  Ravi Shankar Singh; Venkatasubramanian Vidhyasagar; Shizhuo Yang; Ananna Bhadra Arna; Manisha Yadav; Aanchal Aggarwal; Alexya N Aguilera; Satoru Shinriki; Kalpana Kalyanasundaram Bhanumathy; Kannupriya Pandey; Aizhang Xu; Noreen Rapin; Mark Bosch; John DeCoteau; Jim Xiang; Franco J Vizeacoumar; Yan Zhou; Vikram Misra; Hirotaka Matsui; Susan R Ross; Yuliang Wu
Journal:  Cell Rep       Date:  2022-05-24       Impact factor: 9.995

2.  Next-generation sequencing reveals the presence of DDX41 mutations in acute lymphoblastic leukemia and aplastic anemia.

Authors:  Yang Zhang; Fang Wang; Xue Chen; Hong Liu; Xiaoliang Wang; Jiaqi Chen; Panxiang Cao; Xiaoli Ma; Hongxing Liu
Journal:  EJHaem       Date:  2021-06-27

3.  Genetic features and clinical outcomes of patients with isolated and comutated DDX41-mutated myeloid neoplasms.

Authors:  Hassan B Alkhateeb; Ahmad Nanaa; David Viswanatha; James M Foran; Talha Badar; Lisa Sproat; Rong He; Phuong Nguyen; Dragan Jevremovic; Mohamad E Salama; Patricia Greipp; Naseema Gangat; Ayalew Tefferi; Mark R Litzow; Abhishek A Mangaonkar; Mithun Vinod Shah; Mrinal Patnaik; Aref Al-Kali
Journal:  Blood Adv       Date:  2022-01-25

4.  R-loop proximity proteomics identifies a role of DDX41 in transcription-associated genomic instability.

Authors:  Thorsten Mosler; Francesca Conte; Gabriel M C Longo; Ivan Mikicic; Nastasja Kreim; Martin M Möckel; Giuseppe Petrosino; Johanna Flach; Joan Barau; Brian Luke; Vassilis Roukos; Petra Beli
Journal:  Nat Commun       Date:  2021-12-16       Impact factor: 14.919

Review 5.  Unique role of DDX41, a DEAD-box type RNA helicase, in hematopoiesis and leukemogenesis.

Authors:  Satoru Shinriki; Hirotaka Matsui
Journal:  Front Oncol       Date:  2022-09-02       Impact factor: 5.738

6.  [Lenalidomide for myelodysplastic syndrome with excess blasts with germline DDX41 mutation: a case report and literatures review].

Authors:  J Chen; S Q Qu; T J Qin; Z J Xiao; Z F Xu
Journal:  Zhonghua Xue Ye Xue Za Zhi       Date:  2020-10-14

7.  GATA2 deficiency syndrome: A decade of discovery.

Authors:  Claire C Homan; Parvathy Venugopal; Peer Arts; Nur H Shahrin; Simone Feurstein; Lesley Rawlings; David M Lawrence; James Andrews; Sarah L King-Smith; Natasha L Harvey; Anna L Brown; Hamish S Scott; Christopher N Hahn
Journal:  Hum Mutat       Date:  2021-08-31       Impact factor: 4.700

Review 8.  Clinical features of DDX41 mutation-related diseases: a systematic review with individual patient data.

Authors:  Ziqi Wan; Bing Han
Journal:  Ther Adv Hematol       Date:  2021-07-16
  8 in total

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