Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome-Reference-Cited by-同舟云学术

Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome

Published:2013-07-25 Issue:4 Volume:122 Page:554-561
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Nikolaev Sergey I.¹,Santoni Federico¹,Vannier Anne¹,Falconnet Emilie¹,Giarin Emanuela²,Basso Giuseppe²,Hoischen Alexander³,Veltman Joris A.³,Groet Jurgen⁴,Nizetic Dean⁴,Antonarakis Stylianos E.¹

Affiliation:

1. Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland;

2. Department of Paediatrics, University of Padua, Padua, Italy;

3. Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, The Netherlands; and

4. Queen Mary University of London, Blizard Institute, Barts and The London School of Medicine, London, United Kingdom

Abstract

Key Points DS TMD shows no DNA rearrangements and a low rate of mutations other than GATA1. DS AMKL always has rearrangements and mutations in genes known for leukemic progression; affected pathways share upregulation of MYC.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/122/4/554/1372737/554.pdf

Reference54 articles.

1. Leukemia in Down syndrome: a review.;Zipursky;Pediatr Hematol Oncol,1992

2. Simultaneous occurrence of mongolism and leukemia; report of a nationwide survey.;Krivit;AMA J Dis Child,1957

3. Risks of leukaemia and solid tumours in individuals with Down’s syndrome.;Hasle;Lancet,2000

4. Incidence and treatment of potentially lethal diseases in transient leukemia of Down syndrome: Pediatric Oncology Group Study.;Al-Kasim;J Pediatr Hematol Oncol,2002

5. Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome.;Malinge;Blood,2009

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