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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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Zeitschriftentitel: | Blood |
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Personen und Körperschaften: | , , , |
In: | Blood, 108, 2006, 7, S. 2435-2437 |
Format: | E-Article |
Sprache: | Englisch |
veröffentlicht: |
American Society of Hematology
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Schlagwörter: |
author_facet |
Scott, Linda M. Scott, Mike A. Campbell, Peter J. Green, Anthony R. Scott, Linda M. Scott, Mike A. Campbell, Peter J. Green, Anthony R. |
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author |
Scott, Linda M. Scott, Mike A. Campbell, Peter J. Green, Anthony R. |
spellingShingle |
Scott, Linda M. Scott, Mike A. Campbell, Peter J. Green, Anthony R. Blood Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia Cell Biology Hematology Immunology Biochemistry |
author_sort |
scott, linda m. |
spelling |
Scott, Linda M. Scott, Mike A. Campbell, Peter J. Green, Anthony R. 0006-4971 1528-0020 American Society of Hematology Cell Biology Hematology Immunology Biochemistry http://dx.doi.org/10.1182/blood-2006-04-018259 <jats:title>Abstract</jats:title> <jats:p>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.</jats:p> Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia Blood |
doi_str_mv |
10.1182/blood-2006-04-018259 |
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Biologie Medizin Chemie und Pharmazie |
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American Society of Hematology, 2006 |
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American Society of Hematology, 2006 |
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American Society of Hematology |
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title |
Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia |
title_unstemmed |
Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia |
title_full |
Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia |
title_fullStr |
Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia |
title_full_unstemmed |
Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia |
title_short |
Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia |
title_sort |
progenitors homozygous for the v617f mutation occur in most patients with polycythemia vera, but not essential thrombocythemia |
topic |
Cell Biology Hematology Immunology Biochemistry |
url |
http://dx.doi.org/10.1182/blood-2006-04-018259 |
publishDate |
2006 |
physical |
2435-2437 |
description |
<jats:title>Abstract</jats:title>
<jats:p>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.</jats:p> |
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author | Scott, Linda M., Scott, Mike A., Campbell, Peter J., Green, Anthony R. |
author_facet | Scott, Linda M., Scott, Mike A., Campbell, Peter J., Green, Anthony R., Scott, Linda M., Scott, Mike A., Campbell, Peter J., Green, Anthony R. |
author_sort | scott, linda m. |
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description | <jats:title>Abstract</jats:title> <jats:p>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.</jats:p> |
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spelling | Scott, Linda M. Scott, Mike A. Campbell, Peter J. Green, Anthony R. 0006-4971 1528-0020 American Society of Hematology Cell Biology Hematology Immunology Biochemistry http://dx.doi.org/10.1182/blood-2006-04-018259 <jats:title>Abstract</jats:title> <jats:p>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.</jats:p> Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia Blood |
spellingShingle | Scott, Linda M., Scott, Mike A., Campbell, Peter J., Green, Anthony R., Blood, Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia, Cell Biology, Hematology, Immunology, Biochemistry |
title | Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia |
title_full | Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia |
title_fullStr | Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia |
title_full_unstemmed | Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia |
title_short | Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia |
title_sort | progenitors homozygous for the v617f mutation occur in most patients with polycythemia vera, but not essential thrombocythemia |
title_unstemmed | Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia |
topic | Cell Biology, Hematology, Immunology, Biochemistry |
url | http://dx.doi.org/10.1182/blood-2006-04-018259 |