Myeloproliferative neoplasms (MPNs) are a group of rare blood cancers characterized by the excessive production of blood cells in the bone marrow. These disorders arise from acquired genetic driver mutations, with or without underlying genetic predispositions, resulting in the uncontrolled production of red blood cells, white blood cells, or platelets. The excessive cell production and abnormal signaling from driver mutations cause chronic inflammation and a higher risk of blood clots and vascular complications. The primary goals of MPN treatment are to induce remission, improve quality of life and survival, as well as to reduce the risk of complications such as thrombosis, vascular events, and leukemic transformation. This review provides a comprehensive update on the diagnosis and therapeutic advancements in major MPN subtypes, including chronic myeloid leukemia, polycythemia vera, essential thrombocythemia, and primary myelofibrosis. It examines these complex diseases from a molecular and evolutionary perspective, highlighting key clinical trials’ long-term follow-up and therapies targeting driver mutations that have transformed treatment strategies. Additionally, several important advancements in addressing challenges such as anemia in myelofibrosis, along with promising emerging therapies, are also discussed.
骨髓增殖性肿瘤是一组罕见的血液系统恶性肿瘤，其病理特征为骨髓中血细胞过度增殖。这类疾病源于获得性基因驱动突变，可能伴随或不伴随潜在遗传易感性，导致红细胞、白细胞或血小板不受控制地生成。过度细胞增殖及驱动突变引发的异常信号传导会引起慢性炎症，并显著增加血栓形成和血管并发症风险。骨髓增殖性肿瘤治疗的主要目标是诱导疾病缓解、改善患者生活质量和生存率，同时降低血栓形成、血管事件及白血病转化等并发症风险。本综述系统更新了主要骨髓增殖性肿瘤亚型的诊断与治疗进展，涵盖慢性粒细胞白血病、真性红细胞增多症、原发性血小板增多症及原发性骨髓纤维化。文章从分子与演化视角解析这些复杂疾病，重点阐述关键临床试验的长期随访结果，以及通过靶向驱动突变改变治疗策略的新型疗法。此外，还探讨了针对骨髓纤维化贫血等临床挑战的重要进展，并介绍了具有潜力的新兴治疗方向。
Current Advances in the Diagnosis and Treatment of Major Myeloproliferative Neoplasms
肿瘤(癌症)患者之家