Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis

Abstract Prefibrotic primary myelofibrosis (Pre‐PMF) has been classified as a separate entity of myeloproliferative neoplasms (MPNs). Pre‐PMF is clinically heterogeneous but a specific prognostic model is lacking. Gene mutations have emerged as useful tools for stratification of myelofibrosis patien...

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Main Authors: Chi‐Keung Cheng, Jennifer W. Y. Lai, Yuk‐Lin Yung, Hoi‐Yun Chan, Raymond S. M. Wong, Natalie P. H. Chan, Joyce S. Cheung, Xi Luo, Herbert‐Augustus Pitts, Margaret H. L. Ng
Format: Article
Language:English
Published: Wiley 2022-02-01
Series:eJHaem
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Online Access:https://doi.org/10.1002/jha2.361
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author Chi‐Keung Cheng
Jennifer W. Y. Lai
Yuk‐Lin Yung
Hoi‐Yun Chan
Raymond S. M. Wong
Natalie P. H. Chan
Joyce S. Cheung
Xi Luo
Herbert‐Augustus Pitts
Margaret H. L. Ng
author_facet Chi‐Keung Cheng
Jennifer W. Y. Lai
Yuk‐Lin Yung
Hoi‐Yun Chan
Raymond S. M. Wong
Natalie P. H. Chan
Joyce S. Cheung
Xi Luo
Herbert‐Augustus Pitts
Margaret H. L. Ng
author_sort Chi‐Keung Cheng
collection DOAJ
description Abstract Prefibrotic primary myelofibrosis (Pre‐PMF) has been classified as a separate entity of myeloproliferative neoplasms (MPNs). Pre‐PMF is clinically heterogeneous but a specific prognostic model is lacking. Gene mutations have emerged as useful tools for stratification of myelofibrosis patients. However, there have been limited studies comprehensively investigating the mutational spectrum and its clinicopathological significance in pre‐PMF subjects. In this study, we addressed these issues by profiling the mutation status of 141 genes in 172 Chinese MPN patients including 72 pre‐PMF cases. Our findings corroborated the clinical/molecular distinctiveness of pre‐PMF and suggested a refined risk classification strategy for this entity.
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spelling doaj.art-b0e4e21176b34979a6eda4a1d1430a6e2023-08-21T14:05:38ZengWileyeJHaem2688-61462022-02-013118419010.1002/jha2.361Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosisChi‐Keung Cheng0Jennifer W. Y. Lai1Yuk‐Lin Yung2Hoi‐Yun Chan3Raymond S. M. Wong4Natalie P. H. Chan5Joyce S. Cheung6Xi Luo7Herbert‐Augustus Pitts8Margaret H. L. Ng9Blood Cancer Cytogenetics and Genomics Laboratory Department of Anatomical and Cellular Pathology Prince of Wales Hospital The Chinese University of Hong Kong Hong Kong ChinaDepartment of Medicine and Therapeutics, Prince of Wales Hospital The Chinese University of Hong Kong Hong Kong ChinaBlood Cancer Cytogenetics and Genomics Laboratory Department of Anatomical and Cellular Pathology Prince of Wales Hospital The Chinese University of Hong Kong Hong Kong ChinaBlood Cancer Cytogenetics and Genomics Laboratory Department of Anatomical and Cellular Pathology Prince of Wales Hospital The Chinese University of Hong Kong Hong Kong ChinaDepartment of Medicine and Therapeutics, Prince of Wales Hospital The Chinese University of Hong Kong Hong Kong ChinaBlood Cancer Cytogenetics and Genomics Laboratory Department of Anatomical and Cellular Pathology Prince of Wales Hospital The Chinese University of Hong Kong Hong Kong ChinaBlood Cancer Cytogenetics and Genomics Laboratory Department of Anatomical and Cellular Pathology Prince of Wales Hospital The Chinese University of Hong Kong Hong Kong ChinaBlood Cancer Cytogenetics and Genomics Laboratory Department of Anatomical and Cellular Pathology Prince of Wales Hospital The Chinese University of Hong Kong Hong Kong ChinaBlood Cancer Cytogenetics and Genomics Laboratory Department of Anatomical and Cellular Pathology Prince of Wales Hospital The Chinese University of Hong Kong Hong Kong ChinaBlood Cancer Cytogenetics and Genomics Laboratory Department of Anatomical and Cellular Pathology Prince of Wales Hospital The Chinese University of Hong Kong Hong Kong ChinaAbstract Prefibrotic primary myelofibrosis (Pre‐PMF) has been classified as a separate entity of myeloproliferative neoplasms (MPNs). Pre‐PMF is clinically heterogeneous but a specific prognostic model is lacking. Gene mutations have emerged as useful tools for stratification of myelofibrosis patients. However, there have been limited studies comprehensively investigating the mutational spectrum and its clinicopathological significance in pre‐PMF subjects. In this study, we addressed these issues by profiling the mutation status of 141 genes in 172 Chinese MPN patients including 72 pre‐PMF cases. Our findings corroborated the clinical/molecular distinctiveness of pre‐PMF and suggested a refined risk classification strategy for this entity.https://doi.org/10.1002/jha2.361myeloproliferative neoplasmsprefibrotic primary myelofibrosisprognostic factorsRUNX1TP53
spellingShingle Chi‐Keung Cheng
Jennifer W. Y. Lai
Yuk‐Lin Yung
Hoi‐Yun Chan
Raymond S. M. Wong
Natalie P. H. Chan
Joyce S. Cheung
Xi Luo
Herbert‐Augustus Pitts
Margaret H. L. Ng
Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis
eJHaem
myeloproliferative neoplasms
prefibrotic primary myelofibrosis
prognostic factors
RUNX1
TP53
title Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis
title_full Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis
title_fullStr Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis
title_full_unstemmed Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis
title_short Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis
title_sort mutational spectrum and prognosis in chinese patients with prefibrotic primary myelofibrosis
topic myeloproliferative neoplasms
prefibrotic primary myelofibrosis
prognostic factors
RUNX1
TP53
url https://doi.org/10.1002/jha2.361
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