Myeloproliferative neoplasms (MPNs) encompass three principal subtypes: polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). These hematologic malignancies originate from clonal hematopoietic stem cells (HSCs) and exhibit pathological overproduction of myeloid lineage cells. Recent advances in molecular diagnostics, particularly the precise detection of core driver mutations (JAK2 V617F,CALR, andMPL) and non-driver mutations (ASXL1,TET2,SRSF2), has refined diagnostic precision and risk stratification. A variety of prognostic models for MPNs provide guidance for treatment. Treatment methods mainly include bloodletting therapy, low-dose aspirin anticoagulant therapy, cytoreductive therapy, and allogeneic hematopoietic stem cell transplantation (HSCT). JAK inhibitors (such as ruxolitinib) remain the basic therapeutic drugs. However, emerging strategies targeting epigenetic dysregulation and the interaction in the immune microenvironment (such as interferon-α) show promise in reducing drug resistance. New methods, including combination therapy (combination of JAK inhibitors and BCL-XL inhibitors) and mutation-independent immunotherapy, are under investigation. This review summarizes the latest advancements in the diagnosis and treatment of MPNs, highlighting the importance of molecular mechanisms in guiding therapeutic approaches and the potential for precision medicine in the future.
骨髓增殖性肿瘤（MPNs）主要包括三种亚型：真性红细胞增多症（PV）、原发性血小板增多症（ET）和原发性骨髓纤维化（PMF）。这些血液系统恶性肿瘤起源于克隆性造血干细胞（HSCs），表现为髓系细胞的病理性过度增殖。近年来分子诊断技术的进步，特别是对核心驱动基因突变（JAK2 V617F、CALR和MPL）及非驱动基因突变（ASXL1、TET2、SRSF2）的精准检测，显著提升了诊断准确性与风险分层能力。多种预后模型为MPNs的治疗提供了指导依据。治疗方法主要包括放血疗法、小剂量阿司匹林抗凝治疗、细胞减灭治疗以及异基因造血干细胞移植（HSCT）。JAK抑制剂（如鲁索替尼）仍是基础治疗药物。然而，针对表观遗传失调和免疫微环境相互作用的新兴策略（如干扰素-α）在降低耐药性方面展现出潜力。包括联合疗法（JAK抑制剂与BCL-XL抑制剂联用）及不依赖突变的免疫疗法在内的新方法正在研究中。本综述总结了MPNs诊疗的最新进展，强调了分子机制在指导治疗策略中的重要性以及未来精准医疗的应用前景。
Advances in the Diagnosis and Treatment of Myeloproliferative Neoplasms (MPNs)
肿瘤(癌症)患者之家