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New Insights into the Molecular Pathogenesis of Myeloproliferative Neoplasms

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Guest Editor

Special Issue Information

Dear Colleagues,

Myeloproliferative neoplasms represent a heterogenous group of chronic hematological malignancies that includes polycythemia vera, essential thrombocythemia, and myelofibrosis, characterized by excessive myeloproliferation and chronic systemic inflammation. At the molecular level, most of these diseases show a hyperactivation of the JAK/STAT signaling pathway as a consequence of driver mutations in genes such as JAK2, CALR, or MPL. Although progress has been made in characterizing the molecular basis of these diseases, there is still a need to identify more effective personalized treatments. This Special Issue aims to collect original research or review articles focusing on the new advances in the molecular mechanisms underlying the development and progression of these diseases. Subjects such as the development of new potential treatments or combination strategies, genetic and epigenetic factors involved in MPN progression, identification of new biomarkers for early diagnosis, response and resistance to therapy, and the impact of inflammation and the microenvironment on MPN pathogenesis are welcome.

Dr. Laura Georgiana Necula
Guest Editor

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Keywords

  • myeloproliferative neoplasms
  • molecular diagnostic
  • targeted therapy
  • biomarkers
  • inflammation

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Published Papers (2 papers)

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Research

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15 pages, 307 KiB  
Article
Matrix Metalloproteinases Family Gene Polymorphisms Are Associated with Thrombosis Risk in Myeloproliferative Neoplasms
by Roberta Vadeikienė, Aistė Savukaitytė, Danguolė Laukaitienė, Rūta Dambrauskienė, Rolandas Gerbutavičius, Elona Juozaitytė and Rasa Ugenskienė
Int. J. Mol. Sci. 2025, 26(14), 6646; https://doi.org/10.3390/ijms26146646 - 11 Jul 2025
Viewed by 177
Abstract
Myeloproliferative neoplasms (MPNs) are clonal hematopoietic disorders characterized by excessive proliferation of one or more myeloid lineages, frequently accompanied by an elevated risk of thrombotic events. Matrix metalloproteinases (MMPs), a family of zinc-dependent endopeptidases, are implicated in numerous inflammatory and vascular pathophysiological processes. [...] Read more.
Myeloproliferative neoplasms (MPNs) are clonal hematopoietic disorders characterized by excessive proliferation of one or more myeloid lineages, frequently accompanied by an elevated risk of thrombotic events. Matrix metalloproteinases (MMPs), a family of zinc-dependent endopeptidases, are implicated in numerous inflammatory and vascular pathophysiological processes. In this study, we analyzed the association between selected MMP polymorphisms, rs1799750, rs243865, rs3025058, rs3918242, and rs17576, and thrombotic risk as well as clinical characteristics in patients with MPNs. Genotyping was performed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Among the polymorphisms analyzed, a statistically significant association was identified between the MMP-9 rs3918242 CT genotype and an increased risk of arterial thrombosis (OR = 4.206, CI 1.337–13.234, p = 0.014). Moreover, rs3918242 CT was associated with thrombotic events (both arterial and venous thrombosis combined), suggesting a potential contributory role in the prothrombotic phenotype observed in MPNs (OR = 3.200, CI 1.110–9.258, p = 0.031). These findings indicate that genetic variation in MMP-9, particularly rs3918242, may serve as a predictive marker for vascular complications in MPN patients. Further studies with larger cohorts are warranted to confirm these associations and to elucidate the molecular mechanisms underlying the contribution of MMP polymorphisms to thrombosis in MPNs. Full article

Review

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18 pages, 575 KiB  
Review
Monocyte Involvement in the Pathogenesis of Myeloproliferative Neoplasms
by Xuedong Li, Mingli Xu and Yingying Wang
Int. J. Mol. Sci. 2025, 26(13), 6422; https://doi.org/10.3390/ijms26136422 - 3 Jul 2025
Viewed by 397
Abstract
Classical BCR-ABL-negative myeloproliferative neoplasms are a heterogeneous group of hematologic malignancies, including essential thrombocythemia, polycythemia vera, and primary myelofibrosis. Monocytes, immune cells derived from hematopoietic stem cells, exhibit significant heterogeneity and contribute to immune regulation through cytokine secretion and differentiation into dendritic cells [...] Read more.
Classical BCR-ABL-negative myeloproliferative neoplasms are a heterogeneous group of hematologic malignancies, including essential thrombocythemia, polycythemia vera, and primary myelofibrosis. Monocytes, immune cells derived from hematopoietic stem cells, exhibit significant heterogeneity and contribute to immune regulation through cytokine secretion and differentiation into dendritic cells and macrophages. Aberrant monocytes are associated with the prognosis of MPNs, particularly PMF. Furthermore, these altered monocytes play a critical role in the pathogenesis and progression of MPNs. This review aims to explore the heterogeneity of different monocyte subsets during homeostasis and focuses on the potential mechanisms by which monocytes contribute to the development and progression of MPNs. Full article
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