Zhang L, Dong H
State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin Key Laboratory of Gene Therapy for Blood Diseases, CAMS Key Laboratory of Gene Therapy for Blood Diseases, Tianjin 300020, China.
Zhonghua Yi Xue Za Zhi. 2023 Dec 5;103(45):3608-3614. doi: 10.3760/cma.j.cn112137-20230710-00001.
The mutations of myeloproliferative neoplasma (MPN) mainly include driver mutations and non-driver mutations. The driver mutations mainly include JAK2 mutations, CALR mutations and MPL mutations and non-driver mutations mainly include ASXL1, DNMT3A, TET2, SF3B1, EZH2, TP53, SRSF2, USAF1, etc. Driver and non-driver mutations and their clonal evolution affect the thrombosis and disease transformation of MPN. Clonal hematopoiesis of MPN can occur decades before diagnosis, even in the fetal stage. After the emergence of clonal hematopoiesis, until the emergence and progression of MPN, gene mutation order, inflammation, interferon therapy affect the disease phenotype and clonal hematopoiesis of MPN. Although great progress has been made in the understanding of MPN clonal hematopoiesis and its evolution with the development of next-generation sequencing, there are still many limitations. In this study, we mainly discuss gene mutations of MPN and their influences on the thrombosis, leukemia and fibrosis transformation, and the influencing factors of clonal evolution, aiming to summarize the influence of clonal hematopoiesis and its evolution on the complications, prognosis and survival of MPN.
骨髓增殖性肿瘤（MPN）的突变主要包括驱动突变和非驱动突变。驱动突变主要包括JAK2突变、CALR突变和MPL突变，非驱动突变主要包括ASXL1、DNMT3A、TET2、SF3B1、EZH2、TP53、SRSF2、USAF1等。驱动和非驱动突变及其克隆进化影响MPN的血栓形成和疾病转化。MPN的克隆性造血可在诊断前数十年发生，甚至在胎儿期就可出现。克隆性造血出现后，直至MPN的出现和进展，基因突变顺序、炎症、干扰素治疗都会影响MPN的疾病表型和克隆性造血。尽管随着下一代测序技术的发展，在对MPN克隆性造血及其进化的认识上取得了很大进展，但仍存在许多局限性。在本研究中，我们主要讨论MPN的基因突变及其对血栓形成、白血病和纤维化转化的影响，以及克隆进化的影响因素，旨在总结克隆性造血及其进化对MPN并发症、预后和生存的影响。
