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Blood, 15 January 2009, Vol. 113, No. 3, pp. 668-670. Prepublished online as a Blood First Edition Paper on November 19, 2008; DOI 10.1182/blood-2008-09-178087. This Article Full Text Full Text (PDF) Supplemental Table All Versions of this Article: blood-2008-09-178087v1 113/3/668    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 Germeshausen, M. Articles by Ballmaier, M. Search for Related Content PubMed PubMed Citation Articles by Germeshausen, M. Articles by Ballmaier, M. Related Collections Hematopoiesis and Stem Cells Myeloid Neoplasia Phagocytes, Granulocytes, and Myelopoiesis Brief Reports Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  PHAGOCYTES, GRANULOCYTES, AND MYELOPOIESIS Brief report In vivo expansion of cells expressing acquired CSF3R mutations in patients with severe congenital neutropenia Manuela Germeshausen1, Karl Welte1, and Matthias Ballmaier1 1 Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany Severe congenital neutropenia (CN) is a rare bone marrow failure syndrome with a high incidence of acute leukemia. In previous studies, we could show that point mutations in the gene for the granulocyte colony-stimulating factor (G-CSF) receptor CSF3R are a highly predictive marker for leukemic development in CN patients. To find out at which stage of hematopoietic development these mutations emerge and how they are propagated during hematopoietic differentiation, we analyzed single cells of different hematopoietic subpopulations from CN patients with CSF3R mutations. We found that CSF3R mutations are not restricted to the myeloid compartment but are also detectable in lymphoid cells, although at a much lower percentage. From our observations, we conclude that CSF3R mutations are acquired in multipotent hematopoietic progenitor cells in CN patients and that they are clonally expanded in myeloid cells expressing the G-CSF receptor due to the growth advantage mediated by the CSF3R mutation. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: M. Germeshausen, C. P. Kratz, M. Ballmaier, and K. Welte RAS and CSF3R mutations in severe congenital neutropenia Blood, October 15, 2009; 114(16): 3504 - 3505. [Full Text] [PDF] K. Beel and P. Vandenberghe G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia Haematologica, October 1, 2009; 94(10): 1449 - 1452. [Abstract] [Full Text] [PDF]

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