Literature DB >> 30047417

Significance of Clonal Mutations in Bone Marrow Failure and Inherited Myelodysplastic Syndrome/Acute Myeloid Leukemia Predisposition Syndromes.

Eva J Schaefer1, R Coleman Lindsley2.   

Abstract

Clonal hematopoiesis as a hallmark of myelodysplastic syndrome (MDS) is mediated by the selective advantage of clonal hematopoietic stem cells in a context-specific manner. Although primary MDS emerges without known predisposing cause and is associated with advanced age, secondary MDS may develop in younger patients with bone marrow failure syndromes or after exposure to chemotherapy, respectively. This article discusses recent advances in the understanding of context-dependent clonal hematopoiesis in MDS with focus on clonal evolution in inherited and acquired bone marrow failure syndromes.
Copyright © 2018 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Bone marrow failure syndromes; Clonal hematopoiesis; Genetic predisposition; Myelodysplastic syndrome

Mesh:

Year:  2018        PMID: 30047417      PMCID: PMC6065266          DOI: 10.1016/j.hoc.2018.03.005

Source DB:  PubMed          Journal:  Hematol Oncol Clin North Am        ISSN: 0889-8588            Impact factor:   3.722


  57 in total

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Authors:  Blanche P Alter; Neelam Giri; Sharon A Savage; June A Peters; Jennifer T Loud; Lisa Leathwood; Ann G Carr; Mark H Greene; Philip S Rosenberg
Journal:  Br J Haematol       Date:  2010-04-30       Impact factor: 6.998

2.  p53 protein overexpression in bone marrow biopsies of patients with Shwachman-Diamond syndrome has a prevalence similar to that of patients with refractory anemia.

Authors:  M Tarek Elghetany; Blanche P Alter
Journal:  Arch Pathol Lab Med       Date:  2002-04       Impact factor: 5.534

3.  Somatic mutations in children with GATA2-associated myelodysplastic syndrome who lack other features of GATA2 deficiency.

Authors:  Kevin E Fisher; Amy P Hsu; Christopher L Williams; Hadi Sayeed; Brian Y Merritt; M Tarek Elghetany; Steven M Holland; Alison A Bertuch; Maria Monica Gramatges
Journal:  Blood Adv       Date:  2017-02-27

Review 4.  Recent advances in understanding clonal haematopoiesis in aplastic anaemia.

Authors:  Natasha Stanley; Timothy S Olson; Daria V Babushok
Journal:  Br J Haematol       Date:  2017-01-20       Impact factor: 6.998

Review 5.  Pathophysiology and management of inherited bone marrow failure syndromes.

Authors:  Akiko Shimamura; Blanche P Alter
Journal:  Blood Rev       Date:  2010-04-24       Impact factor: 8.250

6.  Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group.

Authors:  Jean Donadieu; Thierry Leblanc; Brigitte Bader Meunier; Mohamed Barkaoui; Odile Fenneteau; Yves Bertrand; Micheline Maier-Redelsperger; Marguerite Micheau; Jean Louis Stephan; Noel Phillipe; Pierre Bordigoni; Annie Babin-Boilletot; Philippe Bensaid; Anne Marie Manel; Etienne Vilmer; Isabelle Thuret; Stephane Blanche; Eliane Gluckman; Alain Fischer; Françoise Mechinaud; Bertrand Joly; Thierry Lamy; Olivier Hermine; Bruno Cassinat; Christine Bellanné-Chantelot; Christine Chomienne
Journal:  Haematologica       Date:  2005-01       Impact factor: 9.941

7.  Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis.

Authors:  Julia Skokowa; Doris Steinemann; Jenny E Katsman-Kuipers; Cornelia Zeidler; Olga Klimenkova; Maksim Klimiankou; Murat Unalan; Siarhei Kandabarau; Vahagn Makaryan; Renee Beekman; Kira Behrens; Carol Stocking; Julia Obenauer; Susanne Schnittger; Alexander Kohlmann; Marijke G Valkhof; Remco Hoogenboezem; Gudrun Göhring; Dirk Reinhardt; Brigitte Schlegelberger; Martin Stanulla; Peter Vandenberghe; Jean Donadieu; C Michel Zwaan; Ivo P Touw; Marry M van den Heuvel-Eibrink; David C Dale; Karl Welte
Journal:  Blood       Date:  2014-02-12       Impact factor: 22.113

8.  The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy.

Authors:  Philip S Rosenberg; Blanche P Alter; Audrey A Bolyard; Mary Ann Bonilla; Laurence A Boxer; Bonnie Cham; Carol Fier; Melvin Freedman; George Kannourakis; Sally Kinsey; Beate Schwinzer; Connie Zeidler; Karl Welte; David C Dale
Journal:  Blood       Date:  2006-02-23       Impact factor: 22.113

9.  Mutation and cancer: statistical study of retinoblastoma.

Authors:  A G Knudson
Journal:  Proc Natl Acad Sci U S A       Date:  1971-04       Impact factor: 11.205

10.  Somatic HLA Mutations Expose the Role of Class I-Mediated Autoimmunity in Aplastic Anemia and its Clonal Complications.

Authors:  Daria V Babushok; Jamie L Duke; Hongbo M Xie; Natasha Stanley; Jamie Atienza; Nieves Perdigones; Peter Nicholas; Deborah Ferriola; Yimei Li; Hugh Huang; Wenda Ye; Jennifer J D Morrissette; Jane Kearns; David L Porter; Gregory M Podsakoff; Laurence C Eisenlohr; Jaclyn A Biegel; Stella T Chou; Dimitrios S Monos; Monica Bessler; Timothy S Olson
Journal:  Blood Adv       Date:  2017-10-10
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  7 in total

Review 1.  The Emerging Role of Hematopathologists and Molecular Pathologists in Detection, Monitoring, and Management of Myeloid Neoplasms with Germline Predisposition.

Authors:  Rashmi Kanagal-Shamanna
Journal:  Curr Hematol Malig Rep       Date:  2021-05-24       Impact factor: 3.952

Review 2.  Genetic predisposition to MDS: clinical features and clonal evolution.

Authors:  Alyssa L Kennedy; Akiko Shimamura
Journal:  Blood       Date:  2019-01-22       Impact factor: 22.113

Review 3.  Mechanisms of somatic transformation in inherited bone marrow failure syndromes.

Authors:  Haruna Batzorig Choijilsuren; Yeji Park; Moonjung Jung
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2021-12-10

Review 4.  Somatic mosaicism in inherited bone marrow failure syndromes.

Authors:  Fernanda Gutierrez-Rodrigues; Sushree S Sahoo; Marcin W Wlodarski; Neal S Young
Journal:  Best Pract Res Clin Haematol       Date:  2021-06-27       Impact factor: 3.670

5.  Human mutational constraint as a tool to understand biology of rare and emerging bone marrow failure syndromes.

Authors:  Joseph H Oved; Daria V Babushok; Michele P Lambert; Nicole Wolfset; M Anna Kowalska; Mortimer Poncz; Konrad J Karczewski; Timothy S Olson
Journal:  Blood Adv       Date:  2020-10-27

Review 6.  Clonal hematopoiesis in the inherited bone marrow failure syndromes.

Authors:  Frederick D Tsai; R Coleman Lindsley
Journal:  Blood       Date:  2020-10-01       Impact factor: 25.476

Review 7.  Clonal Hematopoiesis of Indeterminate Potential as a Novel Risk Factor for Donor-Derived Leukemia.

Authors:  Sarah S Burns; Reuben Kapur
Journal:  Stem Cell Reports       Date:  2020-08-11       Impact factor: 7.765

  7 in total

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