Myeloproliferative neoplasms (MPNs) are hematopoietic diseases characterized by the clonal expansion of single or multiple lineages of differentiated myeloid cells that accumulate in the blood and bone marrow. MPNs are grouped into distinct categories based on key clinical presentations and distinctive mutational hallmarks. These include chronic myeloid leukemia (CML), which is strongly associated with the signatureBCR::ABL1gene translocation, polycythemia vera (PV), essential thrombocythemia (ET), and primary (idiopathic) myelofibrosis (PMF), typically accompanied by molecular alterations in theJAK2,MPL, orCALRgenes. There are also rarer forms such as chronic neutrophilic leukemia (CNL), which involves mutations in theCSF3Rgene. However, rather than focusing on the differences between these alternate disease categories, this review aims to present a unifying molecular etiology in which these overlapping diseases are best understood as disruptions of normal hematopoietic signaling: specifically, the chronic activation of signaling pathways, particularly involving signal transducer and activator of transcription (STAT) transcription factors, most notably STAT5B, leading to the sustained stimulation of myelopoiesis, which underpins the various disease sequalae.
骨髓增殖性肿瘤（MPNs）是一类造血系统疾病，其特征为单系或多系分化髓系细胞的克隆性扩增，并在血液和骨髓中异常积聚。根据关键临床表现和特异性突变标志，MPNs被划分为不同亚型，主要包括：与特征性BCR::ABL1基因易位密切相关的慢性髓系白血病（CML）、真性红细胞增多症（PV）、原发性血小板增多症（ET）以及通常伴随JAK2、MPL或CALR基因分子改变的原发性（特发性）骨髓纤维化（PMF）。此外还存在罕见类型如慢性中性粒细胞白血病（CNL），其发病涉及CSF3R基因突变。然而，本文综述的重点并非探讨这些疾病亚型间的差异，而是旨在提出一种统一的分子病因学框架：将这些具有重叠特征的疾病理解为正常造血信号传导的失调——具体而言，信号通路（尤其是涉及信号转导与转录激活因子（STAT）家族，最显著的是STAT5B）的慢性持续激活，导致髓系造血的持续亢进，这一共同机制构成了各类疾病后遗症的病理基础。
肿瘤(癌症)患者之家