Advances in Molecular Understanding of Polycythemia Vera, Essential Thrombocythemia, and Primary Myelofibrosis: Towards Precision Medicine

Simple Summary Myeloproliferative neoplasms (MPNs) represent a group of blood cancers characterized by the excessive production of blood cells in the bone marrow, including Polycythemia Vera (PV), Essential Thrombocythemia (ET), and Primary Myelofibrosis (PMF). Recent advancements in the field of molecular biology have significantly enhanced our understanding of the genetic underpinnings of these conditions. The identification of specific genetic mutations has refined the accuracy of diagnoses and paved the way for personalized therapeutic approaches. By tailoring treatment strategies to the individual genetic profile of a patient's disease, clinicians can optimize clinical outcomes and improve the quality of life for those affected. This summary aims to elucidate the recent molecular discoveries in PV, ET, and PMF, highlighting their pivotal role in the evolution of patient management strategies.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.