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Abstract：
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 the JAK2, CALR, and MPL genes 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.
摘要：
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），其特征在于造血干细胞的克隆增殖导致造血细胞的过度产生。在过去的二十年中，我们对这些疾病的分子发病机制的理解取得了重大进展，随着JAK2，CALR中关键突变的发现，和MPL基因是关键的。这篇综述提供了光伏分子景观的全面更新，ET,和PMF，突出诊断，预后，以及这些遗传发现的治疗意义。我们深入研究诊断和治疗预后突变患者的挑战，克隆进化,以及下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力来开发个性化治疗策略，旨在为患者优化预后的精准医疗。本文综合了目前关于MPN分子诊断的知识，强调基因谱分析在加强患者护理方面的关键作用,并指出未来的研究方向,有望进一步完善我们对这些复杂疾病的治疗方法.
