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，驱动突变主要有JAK2、CALR和MPL突变，而非驱动突变主要有ASXL1、DNMT3A、TET2、SF3B1、EZH2、TP53、SRSF2、USAF1突变等。驱动突变与非驱动突变以及其克隆演进等会影响MPN的血栓形成及疾病转化。MPN的克隆造血可以出现在诊断前几十年，甚至胎儿阶段。在克隆造血出现后，直至疾病出现及进展，包括基因突变顺序、炎症状态、干扰素治疗等都会影响MPN的疾病表型及克隆造血。虽然随着二代测序等技术的进步，目前对于MPN克隆造血及其演进的认识有了较大进展，但仍然存在许多局限。本文主要从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和克隆演进的影响因素等几个方面进行论述，旨在总结克隆造血及其演进对MPN并发症、预后或生存等的影响。.