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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 (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 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 Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted January 17, 2006 Accepted May 24, 2006 Progenitors homozygous for the V617F JAK2 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 Dept. of Haematology, Cambridge Institute for Medical Research, Cambridge, UK. Dept. of Haematology, Addenbrooke's NHS Trust, Cambridge, UK. Dept. of Haematology, Cambridge Institute for Medical Research, Cambridge, UK * Corresponding author; email: lskiwi{at}hotmail.com. 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 wildtype, V617F- heterozygous and V617F-homozygous mutant cells. We therefore analysed 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 BFU-e were more frequent in PV patients compared to ET patients (p=0.022) and, strikingly, V617F-homozygous BFU-e were detected in all 17 PV patients, but in none of the ET patients (p<0.0001). Moreover, mutation-homozygous cells were present in two ET patients after polycythemic transformation. These results demonstrate that V617F- homozygous erythroid progenitors are present in the vast majority of patients with PV but occur rarely in those with ET. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Article in Blood Online: From 1 to 2 mutated JAK2: the road from ET to PV Stéphane Giraudier and William Vainchenker Blood 2006 108: 2140-2141. [Full Text] [PDF] This article has been cited by other articles: I. Plo, M. Nakatake, L. Malivert, J.-P. de Villartay, S. Giraudier, J.-L. Villeval, L. Wiesmuller, and W. Vainchenker JAK2 stimulates homologous recombination and genetic instability: potential implication in the heterogeneity of myeloproliferative disorders Blood, August 15, 2008; 112(4): 1402 - 1412. [Abstract] [Full Text] [PDF] P. A. Beer, P. J. Campbell, L. M. Scott, A. J. Bench, W. N. Erber, D. Bareford, B. S. Wilkins, J. T. Reilly, H. C. Hasselbalch, R. Bowman, et al. MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort Blood, July 1, 2008; 112(1): 141 - 149. [Abstract] [Full Text] [PDF] J.-J. Kiladjian, F. Cervantes, F. W. G. Leebeek, C. Marzac, B. Cassinat, S. Chevret, D. Cazals-Hatem, A. Plessier, J.-C. Garcia-Pagan, S. D. Murad, et al. 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