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

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 unclea...

Full description

Saved in:
Bibliographic Details
Published in:Blood 2006-10, Vol.108 (7), p.2435-2437
Main Authors: Scott, Linda M., Scott, Mike A., Campbell, Peter J., Green, Anthony R.
Format: Article
Language:English
Subjects:
Base Sequence
Biological and medical sciences
Disease Progression
DNA Mutational Analysis
Erythroid Precursor Cells - metabolism
Granulocytes - cytology
Hematologic and hematopoietic diseases
Heterozygote
Homozygote
Humans
Janus Kinase 2
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
Medical sciences
Molecular Sequence Data
Point Mutation
Polycythemia Vera - genetics
Protein-Tyrosine Kinases - genetics
Protein-Tyrosine Kinases - physiology
Proto-Oncogene Proteins - genetics
Proto-Oncogene Proteins - physiology
Stem Cells - cytology
Thrombocythemia, Essential - genetics
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0006-4971
1528-0020
DOI:10.1182/blood-2006-04-018259