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Myeloproliferative Diseases: From Diagnosis to Treatment Approach, through the Molecular...
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Myeloproliferative Diseases: From Diagnosis to Treatment Approach, through the Molecular Landscape

A special issue of Medicina (ISSN 1648-9144).

Deadline for manuscript submissions: closed (15 November 2021) | Viewed by 20964

Special Issue Editor

Dr. Maura Nicolosi

E-Mail Website
Guest Editor
Department of Hematology, Azienda Ospedaliera Universitaria, Città della Salute e della Scienza di Torino, 28100 Torino, Italy
Interests: lymphoproliferative diseases; non-Hodgkin's lymphoma; chronic lymphocytic leukemia; target therapy; immunotherapy; checkpoint inhibitors

Special Issue Information

Dear Colleagues,

The advent of molecular biological analyses and the widely adoption of next-generation sequencing technology has allowed a deep classification of patients affected by myeloid diseases, especially in Philadelphia-negative myeloproliferative neoplasm (MPNs) in terms of prognosis and survival. Novel and strict classification of patients based on molecular, cytogenetic, and clinical aspects have upgraded the diagnosis, classification, and prognostication of patients, in the early days and during the natural history of the disease, guiding the treatment approach.

The purpose of this Special Issue is to discuss the novel developments of molecular biology in recent years regarding its utility in the different prognostic stratification of patients affected by myeloid disorders, such as primary myelofibrosis (PM), essential thrombocythemia (ET), polycythemia vera (PV). and chronic myeloid leukemia (CML). The value of deeper molecular analyses and the cytogenetic classification in guiding the treatment approaches is continuously under study to improve our knowledge.

This issue shall serve as a collection of different types of contributions from methodological paper to reviews discussing the state of the art of the genetic landscape of MPNs and CML, focusing on the contribution of molecular and cytogenetic information in the prognostication of patients and their value in guiding the treatment approach.

Keywords

  • Myeloid disease
  • Molecular biology
  • Primary myelofibrosis
  • Essential thrombocythemia
  • Chronic myeloid leukemia
  • Cytogenetic analyses

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Published Papers (6 papers)

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14 pages, 521 KiB  
Review
New Horizons in Myeloproliferative Neoplasms Treatment: A Review of Current and Future Therapeutic Options
by Domenico Penna
Medicina 2021, 57(11), 1181; https://doi.org/10.3390/medicina57111181 - 31 Oct 2021
Viewed by 4368
Abstract
Philadelphia-negative myeloproliferative neoplasms (MPN) are aggressive diseases characterized by clonal proliferation of myeloid stem cells. The clonal process leads to excessive red cells production, platelets production, and bone marrow fibrosis. According to the phenotype, MPN can be classified as polycythemia vera (PV), essential [...] Read more.
Philadelphia-negative myeloproliferative neoplasms (MPN) are aggressive diseases characterized by clonal proliferation of myeloid stem cells. The clonal process leads to excessive red cells production, platelets production, and bone marrow fibrosis. According to the phenotype, MPN can be classified as polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). MPN patients have shortened survival due to the increased risk of thrombosis, hemorrhages, and transformation to acute myeloid leukemia (AML). Prognosis is variable, with a shorter life expectancy in myelofibrosis. Currently, drug therapy can reduce symptoms, splenomegaly, and risk of thrombosis. Still, some patients can be resistant or intolerant to the treatment. At the same time, allogeneic stem cell transplant (ASCT) is the only treatment modality with the potential to cure the disease. Nevertheless, the ASCT is reserved for high-risk leukemic progression patients due to the risk of treatment-related death and comorbidity. Therefore, there is a need for new drugs that can eradicate clonal hematopoiesis and prevent progression to more aggressive myeloid neoplasms. Thanks to the better understanding of the disease’s molecular pathogenesis, many new potentially disease-modifying drugs have been developed and are currently in clinical trials. This review explores the most promising new drugs currently in clinical trials. Full article
(This article belongs to the Special Issue Myeloproliferative Diseases: From Diagnosis to Treatment Approach, through the Molecular Landscape)
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20 pages, 2329 KiB  
Review
Precision Medicine in Systemic Mastocytosis
by Maura Nicolosi, Andrea Patriarca, Annalisa Andorno, Abdurraouf Mokhtar Mahmoud, Alessandra Gennari, Renzo Boldorini, Gianluca Gaidano and Elena Crisà
Medicina 2021, 57(11), 1135; https://doi.org/10.3390/medicina57111135 - 20 Oct 2021
Cited by 5 | Viewed by 3274
Abstract
Mastocytosis is a rare hematological neoplasm characterized by the proliferation of abnormal clonal mast cells (MCs) in different cutaneous and extracutaneous organs. Its diagnosis is based on well-defined major and minor criteria, including the pathognomonic dense infiltrate of MCs detected in bone marrow [...] Read more.
Mastocytosis is a rare hematological neoplasm characterized by the proliferation of abnormal clonal mast cells (MCs) in different cutaneous and extracutaneous organs. Its diagnosis is based on well-defined major and minor criteria, including the pathognomonic dense infiltrate of MCs detected in bone marrow (BM), elevated serum tryptase level, abnormal MCs CD25 expression, and the identification of KIT D816V mutation. The World Health Organization (WHO) classification subdivides mastocytosis into a cutaneous form (CM) and five systemic variants (SM), namely indolent/smoldering (ISM/SSM) and advanced SM (AdvSM) including aggressive SM (ASM), SM associated to hematological neoplasms (SM-AHN), and mast cell leukemia (MCL). More than 80% of patients with SM carry a somatic point mutation of KIT at codon 816, which may be targeted by kinase inhibitors. The presence of additional somatic mutations detected by next generation sequencing analysis may impact prognosis and drive treatment strategy, which ranges from symptomatic drugs in indolent forms to kinase-inhibitors active on KIT. Allogeneic stem cell transplant (SCT) may be considered in selected SM cases. Here, we review the clinical, diagnostic, and therapeutic issues of SM, with special emphasis on the translational implications of SM genetics for a precision medicine approach in clinical practice. Full article
(This article belongs to the Special Issue Myeloproliferative Diseases: From Diagnosis to Treatment Approach, through the Molecular Landscape)
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11 pages, 746 KiB  
Review
Atypical Chronic Myeloid Leukemia: New Developments from Molecular Diagnosis to Treatment
by Alessia Castellino, Elisa Santambrogio, Davide Rapezzi and Massimo Massaia
Medicina 2021, 57(10), 1104; https://doi.org/10.3390/medicina57101104 - 14 Oct 2021
Cited by 3 | Viewed by 4079
Abstract
Atypical Chronic Myeloid Leukemia, BCR-ABL1 negative (aCML) is a rare hematological entity, included in the group of myelodysplastic (MDS)/myeloproliferative (MPN) overlap syndromes. It is characterized by an aggressive course, a high rate of acute myeloid leukemia (AML) transformation, and a dismal outcome. The [...] Read more.
Atypical Chronic Myeloid Leukemia, BCR-ABL1 negative (aCML) is a rare hematological entity, included in the group of myelodysplastic (MDS)/myeloproliferative (MPN) overlap syndromes. It is characterized by an aggressive course, a high rate of acute myeloid leukemia (AML) transformation, and a dismal outcome. The clinical presentation includes splenomegaly and leukocytosis with neutrophilia and left-shifted granulocytosis accompanied by granulocytic dysplasia and sometimes multilineage dysplasia. In past years, the disease incidence was likely underestimated, as diagnosis was only based on morphological features. Recently, the improving knowledge in the molecular biology of MDS/MPN neoplasms has made it possible to distinguish aCML from other overlapping syndromes, basing on next generation sequencing. Among the most commonly mutated genes, several involve the Jak-STAT, MAPK, and ROCK signaling pathways, which could be actionable with targeted therapies that are already used in clinical practice, opening the way to tailored treatment in aCML. However, currently, there are few data available for small samples, and allogeneic transplant remains the only curative option for eligible patients. Full article
(This article belongs to the Special Issue Myeloproliferative Diseases: From Diagnosis to Treatment Approach, through the Molecular Landscape)
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12 pages, 683 KiB  
Review
Philadelphia-Negative MPN: A Molecular Journey, from Hematopoietic Stem Cell to Clinical Features
by Valentina Giai, Carolina Secreto, Roberto Freilone and Patrizia Pregno
Medicina 2021, 57(10), 1043; https://doi.org/10.3390/medicina57101043 - 30 Sep 2021
Cited by 1 | Viewed by 2947
Abstract
Philadelphia negative Myeloproliferative Neoplasms (MPN) are a heterogeneous group of hematopoietic stem cell diseases. MPNs show different risk grades of thrombotic complications and acute myeloid leukemia evolution. In the last couple of decades, from JAK2 mutation detection in 2005 to the newer molecular [...] Read more.
Philadelphia negative Myeloproliferative Neoplasms (MPN) are a heterogeneous group of hematopoietic stem cell diseases. MPNs show different risk grades of thrombotic complications and acute myeloid leukemia evolution. In the last couple of decades, from JAK2 mutation detection in 2005 to the newer molecular trademarks studied through next generation sequencing, we are learning to approach MPNs from a deeper perspective. Here, we intend to elucidate the important factors affecting MPN clonal advantage and the reasons why some patients progress to more aggressive disease. Understanding these mechanisms is the key to developing new treatment approaches and targeted therapies for MPN patients. Full article
(This article belongs to the Special Issue Myeloproliferative Diseases: From Diagnosis to Treatment Approach, through the Molecular Landscape)
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14 pages, 371 KiB  
Review
The Prognostic Role of Cytogenetics Analysis in Philadelphia Negative Myeloproliferative Neoplasms
by Giuseppe Lanzarone and Matteo Olivi
Medicina 2021, 57(8), 813; https://doi.org/10.3390/medicina57080813 - 9 Aug 2021
Cited by 2 | Viewed by 3159
Abstract
Myeloproliferative neoplasms (MPNs) are clonal stem cell disorders characterized collectively by clonal proliferation of myeloid cells with variable morphologic maturity and hematopoietic efficiency. Although the natural history of these neoplasms can be measured sometimes in decades more than years, the cytogenetics analysis can [...] Read more.
Myeloproliferative neoplasms (MPNs) are clonal stem cell disorders characterized collectively by clonal proliferation of myeloid cells with variable morphologic maturity and hematopoietic efficiency. Although the natural history of these neoplasms can be measured sometimes in decades more than years, the cytogenetics analysis can offer useful information regarding the prognosis. Cytogenetics has a well-established prognostic role in acute leukemias and in myelodysplastic syndromes, where it drives the clinical decisions. NGS techniques can find adverse mutations with clear prognostic value and are currently included in the prognostic evaluation of MPNs in scores such as MIPSS, GIPSS, MIPSS-PV, and MIPSS-ET. We suggest that cytogenetics (considering its availability and relative cost) has a role regarding prognostic and therapeutic decisions. Full article
(This article belongs to the Special Issue Myeloproliferative Diseases: From Diagnosis to Treatment Approach, through the Molecular Landscape)

Other

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5 pages, 898 KiB  
Case Report
Chronic Myeloid Leukemia in a Patient with Previous Idiopathic Thrombocytopenic Purpura: How to Manage Imatinib Together with Eltrombopag
by Francesco Autore, Federica Sora’, Patrizia Chiusolo, Gessica Minnella, Maria Colangelo, Elena Rossi and Simona Sica
Medicina 2021, 57(12), 1326; https://doi.org/10.3390/medicina57121326 - 3 Dec 2021
Cited by 1 | Viewed by 2412
Abstract
The occurrence of chronic myeloid leukemia (CML), or other myeloproliferative diseases, after the development of idiopathic thrombocytopenic purpura (ITP) is very rare in the current medical literature. Considering the advances in ITP management, and the wide use of new drugs for ITP and [...] Read more.
The occurrence of chronic myeloid leukemia (CML), or other myeloproliferative diseases, after the development of idiopathic thrombocytopenic purpura (ITP) is very rare in the current medical literature. Considering the advances in ITP management, and the wide use of new drugs for ITP and CML, we report an unusual case with this association. Our case report focused on a 64-year-old man with long-standing ITP treated with eltrombopag, who developed hyperleukocytosis during follow-up; after specific laboratory exams, it was diagnosed as CML and he began treatment with imatinib. The treatment with eltrombopag was balanced with imatinib to stabilize his platelet count. Data on bcr-abl and JAK2 transcripts were collected and revealed an optimal response with the achievement of negativization of both molecular signatures. We could demonstrate that treatment with imatinib and eltrombopag was well tolerated and allowed complete molecular remission of CML to be achieved, as well as of ITP. Full article
(This article belongs to the Special Issue Myeloproliferative Diseases: From Diagnosis to Treatment Approach, through the Molecular Landscape)
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