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Blood, 1 February 2008, Vol. 111, No. 3, pp. 1575-1583. Prepublished online as a Blood First Edition Paper on October 30, 2007; DOI 10.1182/blood-2007-09-114231. This Article Full Text (PDF) Supplemental Appendix, Tables, and Figures All Versions of this Article: blood-2007-09-114231v1 111/3/1575    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Forestier, E. Articles by Johansson, B. Search for Related Content PubMed PubMed Citation Articles by Forestier, E. Articles by Johansson, B. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted September 21, 2007 Accepted October 16, 2007 Cytogenetic features of acute lymphoblastic and myeloid leukemias in pediatric patients with Down syndrome - an iBFM-SG study Erik Forestier*, Shai Izraeli, Berna Beverloo, Oskar Haas, Andrea Pession, Kyra Michalova, Batia Stark, Christine J. Harrison, Andrea Teigler-Schlegel, and Bertil Johansson Pediatrics Unit, Department of Clinical Sciences, University of Umea, Umea, Sweden Dept. of Pediatric Hemato-Oncology, Cancer Research Center, Safra's Children's Hospital, Sheba Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel Department of Clinical Genetics, Erasmus MC, Rotterdam, Netherlands Pediatric Hematology and Oncology, Children's Cancer Research Institute, St. Anna Children's Hospital, Vienna, Austria Department of Pediatrics, University of Bologna, S. Orsola Hospital, Bologna, Italy Oncocytogenetics Institute of Clinical Biochemistry, and Laboratory Diagnostics, General Facullty Hospital and 1st Medical Faculty, Charles University, Prague, Czech Republic Department of Pediatric Hematology/Oncology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel Leukaemia Research Cytogenetics Group, Cancer Sciences Division, University of Southampton, Southampton, United Kingdom Department of Human Genetics, Oncogenetic Laboratory, Giessen, Germany Department of Clinical Genetics, Lund University Hospital, Lund, Sweden * Corresponding author; email: erik.forestier{at}pediatri.umu.se. Children with Down syndrome (DS) have a markedly increased risk of acute lymphoblastic and myeloid leukemias (ALL+AML). To identify chromosomal changes cooperating with +21 that may provide information on the pathogenesis of these leukemias, we analyzed 215 DS-ALL and 189 DS-AML. Unlike previous smaller series, a significant proportion of DS-ALL had the typical B-cell precursor ALL abnormalities high hyperdiploidy (HeH; 11%) and t(12;21)(p13;q22) (10%). The HeH DS-ALL were characterized by gains of the same chromosomes as non-DS-HeH, suggesting the same etiology/pathogenesis. In addition, specific genetic subtypes of DS-ALL were suggested by the significant overrepresentation of cases with +X, t(8;14)(q11;q32), and del(9p). Unlike DS-ALL, the common translocations associated with non-DS-AML were rare in DS-AML, which instead were characterized by the frequent presence of dup(1q), del(6q), del(7p), dup(7q), +8, +11, del(16q), and +21. This series of DS leukemias - the largest to date - reveals that DS-ALL is a heterogeneous disorder that comprises both t(12;21) and HeH as well as DS-related abnormalities. Furthermore, this analysis confirms that DS-AML is a distinct entity, originating through other genetic pathways than do non-DS-AML, and suggests that unbalanced changes such as dup(1q), +8, and +21 are involved in the leukemogenic process. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: L. J. Russell, M. Capasso, I. Vater, T. Akasaka, O. A. Bernard, M. J. Calasanz, T. Chandrasekaran, E. Chapiro, S. Gesk, M. Griffiths, et al. Deregulated expression of cytokine receptor gene, CRLF2, is involved in lymphoid transformation in B-cell precursor acute lymphoblastic leukemia Blood, September 24, 2009; 114(13): 2688 - 2698. [Abstract] [Full Text] [PDF] A. C. Xavier, Y. Ge, and J. W. Taub Down Syndrome and Malignancies: A Unique Clinical Relationship: A Paper from the 2008 William Beaumont Hospital Symposium on Molecular Pathology J. Mol. Diagn., September 1, 2009; 11(5): 371 - 380. 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