Somatic mutations and clonal hematopoiesis in congenital neutropenia-Reference-Cited by-同舟云学术

Somatic mutations and clonal hematopoiesis in congenital neutropenia

Published:2018-01-25 Issue:4 Volume:131 Page:408-416
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Xia Jun¹,Miller Christopher A.¹²,Baty Jack³,Ramesh Amrita¹,Jotte Matthew R. M.¹,Fulton Robert S.²,Vogel Tiphanie P.⁴,Cooper Megan A.⁵,Walkovich Kelly J.⁶,Makaryan Vahagn⁷,Bolyard Audrey A.⁷,Dinauer Mary C.⁸,Wilson David B.⁸,Vlachos Adrianna⁹,Myers Kasiani C.¹⁰,Rothbaum Robert J.¹¹,Bertuch Alison A.¹²,Dale David C.⁷,Shimamura Akiko¹³,Boxer Laurence A.⁶,Link Daniel C.¹

Affiliation:

1. Division of Oncology, Department of Internal Medicine,

2. McDonnell Genome Institute, and

3. Division of Biostatistics, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO;

4. Department of Pediatrics, Baylor College of Medicine, Center for Human Immunobiology, Texas Children's Hospital, Houston, TX;

5. Division of Rheumatology, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO;

6. Division of Pediatric Hematology Oncology, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI;

7. Department of Medicine/General Internal Medicine, University of Washington, Seattle, WA;

8. Department of Pediatrics, Washington University School of Medicine, St. Louis, MO;

9. The Feinstein Institute for Medical Research, Division of Hematology/Oncology and Stem Cell Transplantation, Cohen Children's Medical Center, New York, NY;

10. Division of Blood and Marrow Transplantation and Immune Deficiency, The Cancer and Blood Diseases Institute, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH;

11. Division of Gastroenterology and Nutrition, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO;

12. Hematology/Oncology Section, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX; and

13. Bone Marrow Failure and Myelodysplastic Syndrome Program, Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, Boston, MA

Abstract

Key Points Hematopoietic stem/progenitor mutation burden is not increased in SCN. Clonal hematopoiesis due to mutations of TP53 is present in the majority of patients with SDS.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/131/4/408/1465703/blood801985.pdf

Reference48 articles.

1. A syndrome with congenital neutropenia and mutations in G6PC3;Boztug;N Engl J Med,2009

2. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis;Horwitz;Nat Genet,1999

3. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease);Klein;Nat Genet,2007

4. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia;Xia;Br J Haematol,2009

5. A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia;Dale;Blood,1993

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