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Diagnostics and Management of Myelodysplastic Syndromes
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Diagnostics and Management of Myelodysplastic Syndromes

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Hematology".

Deadline for manuscript submissions: closed (31 March 2021) | Viewed by 25452

Special Issue Editor

Dr. Fernando Ramos

E-Mail Website
Guest Editor
Clinical Hematology, Hospital Universitario de León, 24071 León, Spain
Interests: acute myeloid leukemia; myelodysplastic syndrome; older adults; clinical epidemiology; clinical trials; targeted therapy; quality of life
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Myelodysplastic syndrome (MDS) comprises a number of clonal bone marrow diseases most frequently diagnosed in patients older than 50 years, that are characterized by peripheral blood cytopenias in the face of a normal or hypercellular bone marrow, and lead to leukemia in approximately  a quarter of patients. Bone marrow failure in this syndrome is the consequence of immune-mediated intramedullary death (also known as ‘pyroptosis’) of bone marrow progenitors, readily demonstrable by pathological examination. Their etiology is largely unknown, although a number of situations can contribute to its development, namely genetic predisposition, exposure to different chemicals or radiations, autoimmune diseases, etc. MDS clinical evolution is highly variable, and patient prognosis can be estimated by means of a combination of genetic findings, bone marrow blast proportion enumeration, number and degree of peripheral blood cytopenias, as well as other ancillary findings. For years, blood transfusion and hematopoietic cell transplantation have been the cornerstones of their management, but in the last few decades, a better understanding of the molecular defects operating in MDS has fostered a complex armamentarium led by erythroid stimulating agents, followed by lenalidomide and hypomethylating agents, and now complemented by a number of new agents that help to prolong survival and improve patient quality of life. This Special Issue on MDS aims to bring this syndrome closer to the practicing physician, and help our colleagues deal with this old group of diseases, by using an updated clinical approach for their diagnosis, prognosis and treatment.

Dr. Fernando Ramos
Guest Editor

Manuscript Submission Information

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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). 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

  • myelodysplastic syndrome
  • diagnosis
  • prognosis
  • therapy
  • new agents
  • erythropoiesis-stimulating agents
  • hypomethylating agents
  • lenalidomide
  • luspatercept
  • pevonedistat

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Published Papers (4 papers)

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Editorial

Jump to: Review

3 pages, 176 KiB  
Editorial
Myelodysplastic Syndrome: Riding the Crest of the Wave
by Fernando Ramos
J. Clin. Med. 2022, 11(6), 1606; https://doi.org/10.3390/jcm11061606 - 14 Mar 2022
Cited by 1 | Viewed by 1951
Abstract
Myelodysplastic syndrome (MDS) is a group of clonal disorders that arise in pluripotent bone marrow stem cells and present with characteristic phenotypical features (both morphological and flow cytometrical), as well as genotypical abnormalities [...] Full article
(This article belongs to the Special Issue Diagnostics and Management of Myelodysplastic Syndromes)

Review

Jump to: Editorial

17 pages, 734 KiB  
Review
Current Therapy of the Patients with MDS: Walking towards Personalized Therapy
by Maria Luisa Palacios-Berraquero and Ana Alfonso-Piérola
J. Clin. Med. 2021, 10(10), 2107; https://doi.org/10.3390/jcm10102107 - 13 May 2021
Cited by 15 | Viewed by 7197
Abstract
Myelodysplastic syndromes (MDS) are characterized by ineffective hematopoiesis, dysplasia and peripheral cytopenias. Nowadays, MDS therapy is selected based on risk. The goals of therapy are different in low-risk and high-risk patients. In low-risk MDS, the goal is to decrease transfusion needs and to [...] Read more.
Myelodysplastic syndromes (MDS) are characterized by ineffective hematopoiesis, dysplasia and peripheral cytopenias. Nowadays, MDS therapy is selected based on risk. The goals of therapy are different in low-risk and high-risk patients. In low-risk MDS, the goal is to decrease transfusion needs and to increase the quality of life. Currently, available drugs for newly diagnosed low-risk MDS include growth factor support, lenalidomide and immunosuppressive therapy. Additionally, luspatercept has recently been added to treat patients with MDS with ring sideroblasts, who are not candidates or have lost the response to erythropoiesis-stimulating agents. Treatment of high-risk patients is aimed to improve survival. To date, the only currently approved treatments are hypomethylating agents and allogeneic stem cell transplantation. However, the future for MDS patients is promising. In recent years, we are witnessing the emergence of multiple treatment combinations based on hypomethylating agents (pevonedistat, magrolimab, eprenetapopt, venetoclax) that have proven to be effective in MDS, even those with high-risk factors. Furthermore, the approval in the US of an oral hypomethylating agent opens the door to exclusively oral combinations for these patients and their consequent impact on the quality of life of these patients. Relapsed and refractory patients remain an unmet clinical need. We need more drugs and clinical trials for this profile of patients who have a dismal prognosis. Full article
(This article belongs to the Special Issue Diagnostics and Management of Myelodysplastic Syndromes)
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11 pages, 780 KiB  
Review
Prognosis in Myelodysplastic Syndromes: The Clinical Challenge of Genomic Integration
by Tzu-Hua Chen-Liang
J. Clin. Med. 2021, 10(10), 2052; https://doi.org/10.3390/jcm10102052 - 11 May 2021
Cited by 5 | Viewed by 4817
Abstract
Myelodysplastic syndromes (MDS) are a group of clonal hematopoietic neoplasms characterized by ineffective hematopoiesis and myelodysplasia with a variable spectrum of clinical–biological features that can be used to build a prognostic estimation. This review summarizes the current most widely used prognostic scoring systems [...] Read more.
Myelodysplastic syndromes (MDS) are a group of clonal hematopoietic neoplasms characterized by ineffective hematopoiesis and myelodysplasia with a variable spectrum of clinical–biological features that can be used to build a prognostic estimation. This review summarizes the current most widely used prognostic scoring systems and gives a general view of the prognostic impact of somatic mutations in MDS patients. Full article
(This article belongs to the Special Issue Diagnostics and Management of Myelodysplastic Syndromes)
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12 pages, 767 KiB  
Review
Difficult Cases of Paroxysmal Nocturnal Hemoglobinuria: Diagnosis and Therapeutic Novelties
by Bruno Fattizzo, Fabio Serpenti, Juri Alessandro Giannotta and Wilma Barcellini
J. Clin. Med. 2021, 10(5), 948; https://doi.org/10.3390/jcm10050948 - 1 Mar 2021
Cited by 13 | Viewed by 10869
Abstract
Paroxysmal nocturnal hemoglobinuria (PNH) is an intriguing disease that can pose many difficulties to physicians, as well as to hematologists, who are unfamiliar with it. Research regarding its pathophysiologic, diagnostic, and therapeutic aspects is still ongoing. In the last ten years, new flow [...] Read more.
Paroxysmal nocturnal hemoglobinuria (PNH) is an intriguing disease that can pose many difficulties to physicians, as well as to hematologists, who are unfamiliar with it. Research regarding its pathophysiologic, diagnostic, and therapeutic aspects is still ongoing. In the last ten years, new flow cytometry techniques with high sensitivity enabled us to detect PNH clones as small as <1% of a patient’s hematopoiesis, resulting in increasing incidence but more difficult data interpretation. Particularly, the clinical significance of small PNH clones in patients with bone marrow failures, including aplastic anemia and myelodysplastic syndromes, as well as in uncommon associations, such as myeloproliferative disorders, is still largely unknown. Besides current treatment with the anti-C5 eculizumab, which reduced PNH-related morbidity and mortality, new complement inhibitors will likely fulfill unmet clinical needs in terms of patients’ quality of life and better response rates (i.e., responses in subjects with C5 polymorphisms; reduction of extravascular hemolysis and breakthrough hemolysis episodes). Still, unanswered questions remain for these agents regarding their use in mono- or combination therapy, when to treat, and which drug is the best for which patient. Lastly, long-term safety needs to be assessed in real-life studies. In this review, we describe some clinical vignettes illustrating practical aspects of PNH diagnosis and management; moreover, we discuss recent advances in PNH diagnostic and therapeutic approaches. Full article
(This article belongs to the Special Issue Diagnostics and Management of Myelodysplastic Syndromes)
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