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Molecular Pathogenesis of Myeloproliferative Neoplasms
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Molecular Pathogenesis of Myeloproliferative Neoplasms

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Biology".

Deadline for manuscript submissions: closed (30 June 2022) | Viewed by 15212

Special Issue Editors

Dr. Luisa Anelli

E-Mail Website
Guest Editor
Department of Emergency and Organ Transplantation, Hematology and Stem Cell Transplantation Unit, University of Bari “Aldo Moro”, 70100 Bari, Italy
Interests: Hematology; Genetics; Cancer cytogenetics; Molecular biology
Dr. Cosimo Cumbo

E-Mail Website
Guest Editor
Section of Hematology, Department of Emergency and Organ Transplantations, University of Bari “Aldo Moro”, Bari, Italy
Interests: Hematologic neoplasms; cancer genetics; chromosomal rearrangement; next-generation sequencing; third-generation sequencing; droplet digital pcr; precision medicine; personalized medicine
Special Issues, Collections and Topics in MDPI journals
Dr. Francesco Albano

E-Mail Website
Guest Editor
Department of Emergency and Organ Transplantation, Hematology Section, Policlinico - University of Bari, P.zza G. Cesare, 11, 70124 Bari, Italy
Interests: transplantation; leukemia; lymphoma; myeloma; cancer genetics; molecular diagnostics; target therapy; precision medicine

Special Issue Information

Dear Colleagues,

Myeloproliferative neoplasms (MPNs) are a heterogeneous group of rare hematological malignancies widely studied but with several questions to be clarified. Central molecular driver genes with a crucial role in the pathogenesis of these neoplasms have been identified over the years. Recently, numerous next generation sequencing studies revealed the presence of a more complex molecular background concomitant to driver mutations, having an important role in better defining MPNs diagnosis, monitoring and management. Hovewer, several attractive questions remain unresolved, such as the effective pathogenic role of driver gene mutations at low allele frequency, the real existence of the so-called “triple negative MPNs” or the possible contribution of germline polymorphic variants to the disease genetic predisposition.

In the precision medicine era, the present special issue aims to highlight some aspects of the unexplored molecular picture at the basis of MPNs onset and progression. Contributions claryfing possible variants association, clonal complexity and hierarchies or dynamic variations during disease evolution are welcome, with the aim to better understand a group of diseases so widley studied but so needing further investigations.

Dr. Luisa Anelli
Dr. Cosimo Cumbo
Dr. Francesco Albano
Guest Editors

Manuscript Submission Information

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Myeloproliferative neoplasms
  • molecular pathogenesis
  • driver gene mutations
  • genetic predisposition
  • triple negative MPNs
  • low frequency variants
  • clonal complexity

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Published Papers (4 papers)

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Research

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10 pages, 1348 KiB  
Article
Red Blood Cell Morphodynamics in Patients with Polycythemia Vera and Stroke
by Polina I. Kuznetsova, Anton A. Raskurazhev, Alla A. Shabalina, Anait L. Melikhyan, Irina N. Subortseva and Marine M. Tanashyan
Int. J. Mol. Sci. 2022, 23(4), 2247; https://doi.org/10.3390/ijms23042247 - 17 Feb 2022
Cited by 8 | Viewed by 3220
Abstract
Polycythemia vera (PV) is a Ph-negative myeloproliferative neoplasm (MPN) which is characterized by erythrocytosis and a high incidence of thrombotic complications, including stroke. The study aimed to evaluate red blood cell (RBC) morphodynamic properties in PV patients and their possible association with stroke. [...] Read more.
Polycythemia vera (PV) is a Ph-negative myeloproliferative neoplasm (MPN) which is characterized by erythrocytosis and a high incidence of thrombotic complications, including stroke. The study aimed to evaluate red blood cell (RBC) morphodynamic properties in PV patients and their possible association with stroke. We enrolled 48 patients with PV in this cross-sectional study, 13 of which have a history of ischemic stroke. The control group consisted of 90 healthy subjects. RBC deformability and aggregation analysis were performed using a laser-assisted optical rotational red cell analyzer. The following parameters were calculated: aggregation amplitude (Amp), RBC rouleaux formation time constant (Tf), time of formation of three-dimensional aggregates (Ts), aggregation index (AI), rate of complete disaggregation (y-dis), and the maximal elongation of RBC (EImax). Statistical analysis was performed with the R programming language. There were significant differences in RBCs morphodynamics features between patients with PV and the control group. Lower EImax (0.47 (0.44; 0.51) vs. 0.51 (0.47; 0.54), p < 0.001) and γ-dis (100 (100; 140) vs. 140 (106; 188) s−1, p < 0.001) along with higher amplitude (10.1 (8.6; 12.2) vs. 7.7 (6.6; 9.2), p < 0.001) was seen in patients with PV compared with control. A statistically significant difference between PV patients with and without stroke in aggregation amplitude was found (p = 0.03). A logistic regression model for stroke was built based on RBC morphodynamics which performed reasonably well (p = 0.01). RBC alterations may be associated with overt cerebrovascular disease in PV, suggesting a possible link between erythrocyte morphodynamics and increased risk of stroke. Full article
(This article belongs to the Special Issue Molecular Pathogenesis of Myeloproliferative Neoplasms)
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Review

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19 pages, 749 KiB  
Review
Molecular Pathogenesis of Myeloproliferative Neoplasms: From Molecular Landscape to Therapeutic Implications
by Erika Morsia, Elena Torre, Antonella Poloni, Attilio Olivieri and Serena Rupoli
Int. J. Mol. Sci. 2022, 23(9), 4573; https://doi.org/10.3390/ijms23094573 - 20 Apr 2022
Cited by 11 | Viewed by 6068
Abstract
Despite distinct clinical entities, the myeloproliferative neoplasms (MPN) share morphological similarities, propensity to thrombotic events and leukemic evolution, and a complex molecular pathogenesis. Well-known driver mutations, JAK2, MPL and CALR, determining constitutive activation of JAK-STAT signaling pathway are the hallmark of [...] Read more.
Despite distinct clinical entities, the myeloproliferative neoplasms (MPN) share morphological similarities, propensity to thrombotic events and leukemic evolution, and a complex molecular pathogenesis. Well-known driver mutations, JAK2, MPL and CALR, determining constitutive activation of JAK-STAT signaling pathway are the hallmark of MPN pathogenesis. Recent data in MPN patients identified the presence of co-occurrence somatic mutations associated with epigenetic regulation, messenger RNA splicing, transcriptional mechanism, signal transduction, and DNA repair mechanism. The integration of genetic information within clinical setting is already improving patient management in terms of disease monitoring and prognostic information on disease progression. Even the current therapeutic approaches are limited in disease-modifying activity, the expanding insight into the genetic basis of MPN poses novel candidates for targeted therapeutic approaches. This review aims to explore the molecular landscape of MPN, providing a comprehensive overview of the role of drive mutations and additional mutations, their impact on pathogenesis as well as their prognostic value, and how they may have future implications in therapeutic management. Full article
(This article belongs to the Special Issue Molecular Pathogenesis of Myeloproliferative Neoplasms)
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11 pages, 566 KiB  
Review
Second Cancer Onset in Myeloproliferative Neoplasms: What, When, Why?
by Cosimo Cumbo, Luisa Anelli, Antonella Zagaria, Nicoletta Coccaro, Francesco Tarantini, Giorgina Specchia, Pellegrino Musto and Francesco Albano
Int. J. Mol. Sci. 2022, 23(6), 3177; https://doi.org/10.3390/ijms23063177 - 15 Mar 2022
Cited by 6 | Viewed by 2789
Abstract
The risk of developing a solid cancer is a major issue arising in the disease course of a myeloproliferative neoplasm (MPN). Although the connection between the two diseases has been widely described, the backstage of this complex scenario has still to be explored. [...] Read more.
The risk of developing a solid cancer is a major issue arising in the disease course of a myeloproliferative neoplasm (MPN). Although the connection between the two diseases has been widely described, the backstage of this complex scenario has still to be explored. Several cellular and molecular mechanisms have been suggested to link the two tumors. Sometimes the MPN is considered to trigger a second cancer but at other times both diseases seem to depend on the same source. Increasing knowledge in recent years has revealed emerging pathways, supporting older, more consolidated theories, but there are still many unresolved issues. Our work aims to present the biological face of the complex clinical scenario in MPN patients developing a second cancer, focusing on the main cellular and molecular pathways linking the two diseases. Full article
(This article belongs to the Special Issue Molecular Pathogenesis of Myeloproliferative Neoplasms)
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Other

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13 pages, 2119 KiB  
Case Report
Histopathology and Molecular Genetics in Systemic Mastocytosis: Implications for Clinical Management
by Francesca Crupi, Benedetta Sordi, Fiorenza Vanderwert, Francesca Gesullo, Andrea Amorosi, Francesco Mannelli and Raffaella Santi
Int. J. Mol. Sci. 2022, 23(15), 8772; https://doi.org/10.3390/ijms23158772 - 7 Aug 2022
Viewed by 2300
Abstract
The diagnosis of systemic mastocytosis (SM) is based on various clinical, dermatological, serological, and hematological findings but essentially relies on histological evidence of an abnormal increase in tissue-localized mast cells (MCs). The extra-cutaneous organ most frequently affected is the bone marrow (BM), and [...] Read more.
The diagnosis of systemic mastocytosis (SM) is based on various clinical, dermatological, serological, and hematological findings but essentially relies on histological evidence of an abnormal increase in tissue-localized mast cells (MCs). The extra-cutaneous organ most frequently affected is the bone marrow (BM), and therefore, histological examination of trephine biopsy specimens of the iliac crest is mandatory on suspicion of SM. At microscopic examination, neoplastic MCs show aberrant morphology, usually with prominent spindling. Immunohistochemistry is a useful tool in the diagnosis of SM because mast cell (MC) infiltrates may be slight and scarce, in a mixed background of lymphohistiocytic cells, eosinophils, and plasma cells. Moreover, neoplastic MCs exhibit an aberrant phenotype. Recent evidence, largely derived from molecular genetics, has enhanced the diagnostic capability of SM, also providing the basis for adequate prognostic and therapeutic evaluation. The cases herein reported illustrate the variable clinical manifestations and disease course of SM, focusing on diagnostic and therapeutic challenges. In accordance with the World Health Organization (WHO) classification and the International Consensus Classification (ICC) systems, our findings emphasize the importance of an integrated diagnostic approach for SM, with proper application of diverse assessment methodologies in order to improve SM classification and treatment effectiveness. Full article
(This article belongs to the Special Issue Molecular Pathogenesis of Myeloproliferative Neoplasms)
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