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Blood, 26 February 2009, Vol. 113, No. 9, pp. 2022-2027. Prepublished online as a Blood First Edition Paper on December 1, 2008; DOI 10.1182/blood-2008-07-167056. This Article Full Text Full Text (PDF) All Versions of this Article: blood-2008-07-167056v1 113/9/2022    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map 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 Schaub, F. X. Articles by Skoda, R. C. Search for Related Content PubMed PubMed Citation Articles by Schaub, F. X. Articles by Skoda, R. C. Related Collections Myeloid Neoplasia Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  MYELOID NEOPLASIA Clonal analysis of deletions on chromosome 20q and JAK2-V617F in MPD suggests that del20q acts independently and is not one of the predisposing mutations for JAK2-V617F Franz X. Schaub1, Roland Jäger2, Renate Looser1, Hui Hao-Shen1, Sylvie Hermouet3,4, François Girodon5, Andre Tichelli6, Heinz Gisslinger7, Robert Kralovics2,7, and Radek C. Skoda1 1 Department of Biomedicine, Experimental Hematology, University Hospital Basel, Basel, Switzerland; 2 Center for Molecular Medicine, Austrian Academy of Sciences, Vienna, Austria; 3 Inserm Unite Mixte de Recherche (UMR) 892, Institut de Biologie, Nantes, France; 4 Centre Hospitalier Universitaire, Nantes, France; 5 Laboratoire d'Hématologie, Centre Hospitalier Universitaire de Dijon, Dijon, France; 6 Division of Diagnostic Hematology, University Hospital Basel, Basel, Switzerland; and 7 Department of Internal Medicine I, Division of Hematology and Blood Coagulation, Medical University of Vienna, Vienna, Austria We developed a real-time copy number polymerase chain reaction assay for deletions on chromosome 20q (del20q), screened peripheral blood granulocytes from 664 patients with myeloproliferative disorders, and identified 19 patients with del20q (2.9%), of which 14 (74%) were also positive for JAK2-V617F. To examine the temporal relationship between the occurrence of del20q and JAK2-V617F, we performed colony assays in methylcellulose, picked individual burst-forming units–erythroid (BFU-E) and colony-forming units–granulocyte (CFU-G) colonies, and genotyped each colony individually for del20q and JAK2-V617F. In 2 of 9 patients, we found that some colonies with del20q carried only wild-type JAK2, whereas other del20q colonies were JAK2-V617F positive, indicating that del20q occurred before the acquisition of JAK2-V617F. However, in colonies from 3 of 9 patients, we observed the opposite order of events. The lack of a strict temporal order of occurrence makes it doubtful that del20q represents a predisposing event for JAK2-V617F. In 2 patients with JAK2-V617F and 1 patient with MPL-W515L, microsatellite analysis revealed that del20q affected chromosomes of different parental origin and/or 9pLOH occurred at least twice. The fact that rare somatic events, such as del20q or 9pLOH, occurred more than once in subclones from the same patients suggests that the myeloproliferative disorder clone carries a predisposition to acquiring such genetic alterations. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: J. R. Lambert, T. Everington, D. C. Linch, and R. E. Gale In essential thrombocythemia, multiple JAK2-V617F clones are present in most mutant-positive patients: a new disease paradigm Blood, October 1, 2009; 114(14): 3018 - 3023. [Abstract] [Full Text] [PDF] C. Saint-Martin, G. Leroy, F. Delhommeau, G. Panelatti, S. Dupont, C. James, I. Plo, D. Bordessoule, C. Chomienne, A. Delannoy, et al. Analysis of the Ten-Eleven Translocation 2 (TET2) gene in familial myeloproliferative neoplasms Blood, August 20, 2009; 114(8): 1628 - 1632. [Abstract] [Full Text] [PDF]

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