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Comparison of the Mutational Profiles of Primary Myelofibrosis, Polycythemia Vera, and Essential Thrombocytosis
Objectives: To compare the mutational profiles of patients with primary myelofibrosis (PMF), polycythemia vera (PV), and essential thrombocytosis (ET). Methods: Next-generation sequencing results of 75 cases of PMF, 33 cases of PV, and 27 cases of ET were compared. Results: Mutation rates of ASXL1 a...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5402718/ https://www.ncbi.nlm.nih.gov/pubmed/28419183 http://dx.doi.org/10.1093/ajcp/aqw222 |
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author | Song, Jinming Hussaini, Mohammad Zhang, Hailing Shao, Haipeng Qin, Dahui Zhang, Xiaohui Ma, Zhenjun Hussnain Naqvi, Syeda Mahrukh Zhang, Ling Moscinski, Lynn C. |
author_facet | Song, Jinming Hussaini, Mohammad Zhang, Hailing Shao, Haipeng Qin, Dahui Zhang, Xiaohui Ma, Zhenjun Hussnain Naqvi, Syeda Mahrukh Zhang, Ling Moscinski, Lynn C. |
author_sort | Song, Jinming |
collection | PubMed |
description | Objectives: To compare the mutational profiles of patients with primary myelofibrosis (PMF), polycythemia vera (PV), and essential thrombocytosis (ET). Methods: Next-generation sequencing results of 75 cases of PMF, 33 cases of PV, and 27 cases of ET were compared. Results: Mutation rates of ASXL1 and SRSF2 were significantly higher in PMF than in PV or ET. ASXL1 mutations appeared to be more frequently associated with risk of transformation to acute myeloid leukemia than JAK2 or TET2 mutations. The most common mutation-cytogenetic combinations in myeloproliferative neoplasm (MPN) were mutations of JAK2 or ASXL1 with del(20q) and were more common in patients with PMF and PV than in patients with ET. Differences were also found between patients with PMF and PV. Conclusions: PMF, PV, and ET show different mutational profiles, which may be helpful in resolving the differential diagnosis between MPNs. Due to the relatively small number of cases and variable testing over time, larger controlled studies are necessary to confirm the findings. |
format | Online Article Text |
id | pubmed-5402718 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-54027182017-04-28 Comparison of the Mutational Profiles of Primary Myelofibrosis, Polycythemia Vera, and Essential Thrombocytosis Song, Jinming Hussaini, Mohammad Zhang, Hailing Shao, Haipeng Qin, Dahui Zhang, Xiaohui Ma, Zhenjun Hussnain Naqvi, Syeda Mahrukh Zhang, Ling Moscinski, Lynn C. Am J Clin Pathol Original Articles Objectives: To compare the mutational profiles of patients with primary myelofibrosis (PMF), polycythemia vera (PV), and essential thrombocytosis (ET). Methods: Next-generation sequencing results of 75 cases of PMF, 33 cases of PV, and 27 cases of ET were compared. Results: Mutation rates of ASXL1 and SRSF2 were significantly higher in PMF than in PV or ET. ASXL1 mutations appeared to be more frequently associated with risk of transformation to acute myeloid leukemia than JAK2 or TET2 mutations. The most common mutation-cytogenetic combinations in myeloproliferative neoplasm (MPN) were mutations of JAK2 or ASXL1 with del(20q) and were more common in patients with PMF and PV than in patients with ET. Differences were also found between patients with PMF and PV. Conclusions: PMF, PV, and ET show different mutational profiles, which may be helpful in resolving the differential diagnosis between MPNs. Due to the relatively small number of cases and variable testing over time, larger controlled studies are necessary to confirm the findings. Oxford University Press 2017-05 2017-04-15 /pmc/articles/PMC5402718/ /pubmed/28419183 http://dx.doi.org/10.1093/ajcp/aqw222 Text en © American Society for Clinical Pathology, 2017. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Original Articles Song, Jinming Hussaini, Mohammad Zhang, Hailing Shao, Haipeng Qin, Dahui Zhang, Xiaohui Ma, Zhenjun Hussnain Naqvi, Syeda Mahrukh Zhang, Ling Moscinski, Lynn C. Comparison of the Mutational Profiles of Primary Myelofibrosis, Polycythemia Vera, and Essential Thrombocytosis |
title | Comparison of the Mutational Profiles of Primary Myelofibrosis, Polycythemia Vera, and Essential Thrombocytosis |
title_full | Comparison of the Mutational Profiles of Primary Myelofibrosis, Polycythemia Vera, and Essential Thrombocytosis |
title_fullStr | Comparison of the Mutational Profiles of Primary Myelofibrosis, Polycythemia Vera, and Essential Thrombocytosis |
title_full_unstemmed | Comparison of the Mutational Profiles of Primary Myelofibrosis, Polycythemia Vera, and Essential Thrombocytosis |
title_short | Comparison of the Mutational Profiles of Primary Myelofibrosis, Polycythemia Vera, and Essential Thrombocytosis |
title_sort | comparison of the mutational profiles of primary myelofibrosis, polycythemia vera, and essential thrombocytosis |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5402718/ https://www.ncbi.nlm.nih.gov/pubmed/28419183 http://dx.doi.org/10.1093/ajcp/aqw222 |
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