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Blood, 1 October 2006, Vol. 108, No. 7, pp. 2435-2437. Prepublished online as a Blood First Edition Paper on June 13, 2006; DOI 10.1182/blood-2006-04-018259. This Article Full Text Full Text (PDF) Supplemental Table and Figure All Versions of this Article: blood-2006-04-018259v1 108/7/2435    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 Scott, L. M. Articles by Green, A. R. Search for Related Content PubMed PubMed Citation Articles by Scott, L. M. Articles by Green, A. R. Related Collections Red Cells Brief Reports Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  RED CELLS Brief report Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia Linda M. Scott, Mike A. Scott, Peter J. Campbell, and Anthony R. Green From the Department of Haematology, Cambridge Institute for Medical Research; and the Department of Haematology, Addenbrooke's National Health Service (NHS) Trust, Cambridge, United Kingdom. An acquired V617F JAK2 mutation occurs in patients with polycythemia vera (PV) or essential thrombocythemia (ET). In a proportion of V617F-positive patients, mitotic recombination produces mutation-homozygous cells that come to predominate with time. However, the prevalence of homozygosity is unclear, as previous reports studied mixed populations of wild-type, V617F-heterozygous, and V617F-homozygous mutant cells. We therefore analyzed 1766 individual hematopoietic colonies from 34 patients with PV or ET in whom granulocyte sequencing demonstrated that the mutant peak did not predominate. V617F-positive erythroid burst-forming units (BFU-Es) were more frequent in patients with PV compared with patients with ET (P = .022) and, strikingly, V617F-homozygous BFU-Es were detected in all 17 patients with PV, but in none of the patients with ET (P < .001). Moreover, mutation-homozygous cells were present in 2 patients with ET after polycythemic transformation. These results demonstrate that V617F-homozygous erythroid progenitors are present in most patients with PV but occur rarely in those with ET. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? 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