Open AccessMutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis
Author(s) -
Cheng ChiKeung,
Lai Jennifer W. Y.,
Yung YukLin,
Chan HoiYun,
Wong Raymond S. M.,
Chan Natalie P. H.,
Cheung Joyce S.,
Luo Xi,
Pitts HerbertAugustus,
Ng Margaret H. L.
Publication year - 2022
Publication title -
ejhaem
Language(s) - English
Resource type - Journals
ISSN - 2688-6146
DOI - 10.1002/jha2.361
Subject(s) - myelofibrosis , medicine , primary (astronomy) , bone marrow , physics , astronomy
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.