Work

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

Year: 2006

Type: article

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.

Source: Blood

DOI: 10.1182/blood-2006-04-018259

Authors: Linda M. Scott, Mike A. Scott, Peter J. Campbell, Anthony R. Green

Institutions: National Health Service, University of Cambridge

Language: English

Topic: Myeloproliferative Neoplasms: Diagnosis and Treatment

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: Wellcome Trust