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Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia

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Scott, Linda M., Scott, Mike A., Campbell, Peter J., Green, Anthony R.·2006·Blood

Abstract

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.

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Metadata

Authors
Scott, L. M., Scott, M. A., Campbell, P. J., & Green, A. R.
Venue
Blood
Published
2006-10-01
Volume
108
Issue
7
Pages
2435-2437
ISSN
  • 0006-4971 (ISSN-L)
  • 1528-0020
OpenAlex
W2001006614
Cited by
294
References
0
FWCI
14.28
Type
journal article
Language
en
Open access
bronze

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CoChat. (2026). Citation check: Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia. https://app.cochat.ai/papers/10.1182/blood-2006-04-018259
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Scott, L. M., Scott, M. A., Campbell, P. J., & Green, A. R. (2006). Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia. Blood. https://doi.org/10.1182/blood-2006-04-018259

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