Cheng Chi-Keung, Lai Jennifer W Y, Yung Yuk-Lin, Chan Hoi-Yun, Wong Raymond S M, Chan Natalie P H, Cheung Joyce S, Luo Xi, Pitts Herbert-Augustus, Ng Margaret H L
Blood Cancer Cytogenetics and Genomics Laboratory Department of Anatomical and Cellular Pathology Prince of Wales Hospital The Chinese University of Hong Kong Hong Kong China.
Department of Medicine and Therapeutics, Prince of Wales Hospital The Chinese University of Hong Kong Hong Kong China.
EJHaem. 2021 Dec 30;3(1):184-190. doi: 10.1002/jha2.361. eCollection 2022 Feb.
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.
纤维化前原发性骨髓纤维化（Pre-PMF）已被归类为骨髓增殖性肿瘤（MPN）的一个独立实体。Pre-PMF在临床上具有异质性，但缺乏特定的预后模型。基因突变已成为骨髓纤维化患者分层的有用工具。然而，全面研究Pre-PMF患者的突变谱及其临床病理意义的研究有限。在本研究中，我们通过分析172例中国MPN患者（包括72例Pre-PMF病例）中141个基因的突变状态来解决这些问题。我们的研究结果证实了Pre-PMF的临床/分子独特性，并为该实体提出了一种优化的风险分类策略。
