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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...

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Autores principales: Song, Jinming, Hussaini, Mohammad, Zhang, Hailing, Shao, Haipeng, Qin, Dahui, Zhang, Xiaohui, Ma, Zhenjun, Hussnain Naqvi, Syeda Mahrukh, Zhang, Ling, Moscinski, Lynn C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
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.
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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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