Blood online
Home About Blood Authors Subscriptions Permission Advertising Public Access contact us
 

 
Advanced
Current Issue
First Edition
Archives
Submit to Blood
Search
American Society of Hematology
Meeting Abstracts
Email Alerts
 Blood, 15 August 2008, Vol. 112, No. 4, pp. 1042-1047.
Prepublished online as a Blood First Edition Paper on May 16, 2008; DOI 10.1182/blood-2008-01-135970.

This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Supplemental Methods and Figure
Right arrow All Versions of this Article:
blood-2008-01-135970v1
112/4/1042    most recent
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Right arrow Rights and Permissions
Citing Articles
Right arrow Citing Articles via CrossRef
Google Scholar
Right arrow Articles by Shinawi, M.
Right arrow Articles by Plon, S. E.
PubMed
Right arrow PubMed Citation
Right arrow Articles by Shinawi, M.
Right arrow Articles by Plon, S. E.
Related Collections
Right arrow Hematopoiesis and Stem Cells
Right arrow Neoplasia
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati  
What's this?

arrow to previous article Previous Article  |  Table of Contents  |  Next Article next article arrow

HEMATOPOIESIS AND STEM CELLS

Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q

Marwan Shinawi1,*, Ayelet Erez1,*, Deborah L. Shardy2,3, Brendan Lee1,2, Rizwan Naeem2,3, George Weissenberger1,4, A. Craig Chinault1,4, Sau Wai Cheung1,4, and Sharon E. Plon13

Departments of1 Molecular and Human Genetics, 2 Pediatrics, Baylor College of Medicine, Houston, TX; 3 Texas Children's Cancer Center, Baylor College of Medicine and Texas Children's Hospital, Houston, TX; and 4 Medical Genetics Laboratories, Baylor College of Medicine, Houston, TX

Several lines of evidence support the presence of dosage-sensitive genes on chromosome 21 that regulate leukemogenesis and hematopoiesis. We report a detailed clinical and molecular characterization of 3 patients with chronic thrombocytopenia caused by distinct constitutional microdeletions involving chromosomal region 21q22.12. The patients exhibited growth restriction, dysmorphic features, and developmental delays. One patient developed acute myelogenous leukemia (AML) at 6 years of age. All 3 deletions included the RUNX1, CLIC6, DSCR, and KCNE1 genes. Our data provide additional support for the role of RUNX1 haploinsufficiency in megakaryopoiesis and predisposition to AML. The leukemic clone had trisomy 21 resulting from duplication of chromosome 21 containing the RUNX1 deletion. This shows that genes other than RUNX1 must also play a role in AML associated with trisomy 21. We recommend that children with syndromic thrombocytopenia have clinical array-comparative genomic hybridization analysis and appropriate cytogenetic studies to facilitate our ability to provide a definitive diagnosis.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati    What's this?




click for free articles
home about blood authors subscriptions permissions advertising public access contact us
  Copyright © 2008 by American Society of Hematology         Online ISSN: 1528-0020