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Blood, 15 November 2003, Vol. 102, No. 10, pp. 3793-3796. Prepublished online as a Blood First Edition Paper on June 26, 2003; DOI 10.1182/blood-2003-03-0885. This Article Full Text Full Text (PDF) All Versions of this Article: 2003-03-0885v1 102/10/3793    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 Kralovics, R. Articles by Prchal, J. T. Search for Related Content PubMed PubMed Citation Articles by Kralovics, R. Articles by Prchal, J. T. Related Collections Hematopoiesis and Stem Cells Neoplasia Brief Reports Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  NEOPLASIA Brief report Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease Robert Kralovics, David W. Stockton, and Josef T. Prchal From the Department of Research, Experimental Hematology, Basel University Hospital, Basel, Switzerland; and the Departments of Molecular and Human Genetics, Medicine, and Ophthalmology, Baylor College of Medicine, Houston, TX. Familial clustering of malignancies provides a unique opportunity to identify molecular causes of cancer. Polycythemia vera (PV) is a myeloproliferative disorder due to an unknown somatic stem cell defect that leads to clonal myeloid hyperproliferation. We studied 6 families with PV. The familial predisposition to PV appears to follow an autosomal dominant inheritance pattern with incomplete penetrance. All examined females informative for a transcriptional clonality assay had clonal hematopoiesis. We excluded linkage between PV and a number of previously proposed candidate disease loci (c-mpl, EPOR, 20q, 13q, 5q, 9p). Therefore, mutations at these loci are unlikely primary causes of familial PV. The finding of erythropoietin-independent erythroid progenitors in healthy family members indicated the presence of the PV stem cell clone in their hematopoiesis. This finding, together with clonal hematopoiesis in the affected individuals, supports the hypothesis of multiple genetic defects involved in the early pathogenesis of PV. (Blood. 2003;102:3793-3796) CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: A. M. Vannucchi, G. Masala, E. Antonioli, M. Chiara Susini, P. Guglielmelli, L. 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