Myeloproliferative neoplasms (MPNs), including Polycythemia Vera (PV), Essential Thrombocythemia (ET), and Primary Myelofibrosis (PMF), are characterized by the clonal proliferation of hematopoietic stem cells leading to an overproduction of hematopoietic cells. The last two decades have seen significant advances in our understanding of the molecular pathogenesis of these diseases, with the discovery of key mutations in theJAK2,CALR, andMPLgenes being pivotal. This review provides a comprehensive update on the molecular landscape of PV, ET, and PMF, highlighting the diagnostic, prognostic, and therapeutic implications of these genetic findings. We delve into the challenges of diagnosing and treating patients with prognostic mutations, clonal evolution, and the impact of emerging technologies like next-generation sequencing and single-cell genomics on the field. The future of MPN management lies in leveraging these molecular insights to develop personalized treatment strategies, aiming for precision medicine that optimizes outcomes for patients. This article synthesizes current knowledge on molecular diagnostics in MPNs, underscoring the critical role of genetic profiling in enhancing patient care and pointing towards future research directions that promise to further refine our approach to these complex disorders.
骨髓增殖性肿瘤（MPNs），包括真性红细胞增多症（PV）、原发性血小板增多症（ET）和原发性骨髓纤维化（PMF），其特征是造血干细胞克隆性增殖导致造血细胞过度生成。过去二十年间，我们对这些疾病分子发病机制的理解取得了显著进展，其中JAK2、CALR和MPL基因关键突变的发现至关重要。本综述全面更新了PV、ET和PMF的分子图谱，重点阐述了这些遗传学发现对诊断、预后和治疗的意义。我们深入探讨了在诊断和治疗携带预后突变、发生克隆演化的患者时所面临的挑战，以及新一代测序和单细胞基因组学等新兴技术对该领域的影响。MPN管理的未来在于利用这些分子洞察开发个体化治疗策略，以实现优化患者预后的精准医疗。本文整合了当前关于MPN分子诊断的知识，强调了基因谱分析在改善患者护理中的关键作用，并指出了有望进一步完善这些复杂疾病诊疗策略的未来研究方向。
肿瘤(癌症)患者之家