GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia-Reference-Cited by-同舟云学术

GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia

Published:2013-12-05 Issue:24 Volume:122 Page:3908-3917
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Roberts Irene¹,Alford Kate²,Hall Georgina³,Juban Gaetan²,Richmond Helen¹,Norton Alice²,Vallance Grant²⁴,Perkins Kelly²,Marchi Emanuele²,McGowan Simon⁵,Roy Anindita¹,Cowan Gillian¹,Anthony Mark⁶,Gupta Amit⁶,Ho John⁷,Uthaya Sabita⁸,Curley Anna⁹,Rasiah Shree Vishna¹⁰,Watts Timothy¹¹,Nicholl Richard¹²,Bedford-Russell Alison¹³,Blumberg Raoul¹⁴,Thomas Angela¹⁵,Gibson Brenda¹⁶,Halsey Chris¹⁶,Lee Pek-Wan¹⁷,Godambe Sunit¹⁸,Sweeney Connor²,Bhatnagar Neha¹,Goriely Anne¹⁹,Campbell Peter²⁰,Vyas Paresh²⁴

Affiliation:

1. Centre for Haematology, Hammersmith Campus, Imperial College London, London, United Kingdom;

2. MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom;

3. Paediatric Haematology/Oncology Unit, and

4. Department of Haematology, Oxford University Hospital, NHS Trust, Oxford, United Kingdom;

5. Computational Biology Research Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom;

6. Department of Neonatal Medicine, Oxford University Hospital, NHS Trust, Oxford, United Kingdom;

7. Whipps Cross University Hospital NHS Trust, London, United Kingdom;

8. Chelsea and Westminster Hospital NHS Foundation Trust, London, United Kingdom;

9. Cambridge University Hospital NHS Foundation Trust, Cambridge, United Kingdom;

10. Birmingham Women’s NHS Foundation Trust, Birmingham, United Kingdom;

11. Guy’s and St. Thomas’ NHS Foundation Trust, London, United Kingdom;

12. The North West London Hospitals NHS Trust, London, United Kingdom;

13. Heart of England NHS Foundation Trust, London, United Kingdom;

14. The Whittington Hospital, London, United Kingdom;

15. Royal Hospital for Sick Children, Edinburgh, United Kingdom;

16. Royal Hospital for Sick Children, Glasgow, Scotland, United Kingdom;

17. The Royal Wolverhampton Hospitals NHS Trust, Wolverhampton, United Kingdom;

18. Queen Charlotte’s and St. Mary’s Hospitals, Imperial College Healthcare NHS Trust, London, United Kingdom;

19. Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom; and

20. Cancer Genome Group, Wellcome Trust, Sanger Centre, Cambridge, United Kingdom

Abstract

Key Points GATA1 mutations are common in neonates with Down syndrome but are often unsuspected and detectable only with sensitive methods. Multilineage blood abnormalities in all Down syndrome neonates in the absence of GATA1 mutations suggests that trisomy 21 itself perturbs hemopoiesis.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/122/24/3908/1370284/3908.pdf

Reference40 articles.

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3. Natural history of GATA1 mutations in Down syndrome.;Ahmed;Blood,2004

4. GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome.;Hitzler;Blood,2003

5. Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21.;Rainis;Blood,2003

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