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Current Oncology
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The Molecular Pathology of Myelodysplastic Syndromes
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The Molecular Pathology of Myelodysplastic Syndromes

A special issue of Current Oncology (ISSN 1718-7729). This special issue belongs to the section "Hematology".

Deadline for manuscript submissions: closed (15 August 2024) | Viewed by 7104

Special Issue Editor

Dr. Victor E. Nava

E-Mail Website
Guest Editor
1. Veterans Affairs Medical Center, Washington, DC 20422, USA
2. Department of Pathology, George Washington University, Washington, DC 20037, USA
Interests: pathology; hematopathology; molecular biology; virology; immunology; oncogenesis; parasitology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Myelodysplastic syndromes (MDS) comprise heterogeneous blood malignancies overlapping with myeloproliferative neoplasms, which can especially affect the elderly in the absence of genetic diseases. These disorders are defined by clonal stem cell defects, which affect proliferation, differentiation and apoptosis, resulting in chronic dysplastic cytopenias (ineffective hematopoiesis and even bone marrow aplasia) with or without myelofibrosis, frequently evolving into acute myeloid leukemia. Despite significant progress, including the discovery that approximately 90% of MDS harbor recurrent genetic alterations, these entities remain intractable and curable only with bone marrow transplantation, which is impossible in most cases due to advance age and associated co-morbidities.

This review series focuses on the molecular underpinnings of MDS using the framework of the upcoming World Health Organization classification update. Clinicopathological and molecular features are considered in relation to the diagnostic and therapeutic challenges posed by this rare disease. Accordingly, new analytic tools, including artificial intelligence of digitalized micrographs would be welcomed.

Dr. Victor E. Nava
Guest Editor

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Keywords

  • myelodysplastic syndrome
  • myeloproliferative neoplasm
  • molecular pathology
  • acute myeloid leukemia
  • next generation sequencing
  • personalized medicine

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Published Papers (3 papers)

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Research

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12 pages, 788 KiB  
Article
Myelodysplastic Neoplasms (MDS) with Ring Sideroblasts or SF3B1 Mutations: The Improved Clinical Utility of World Health Organization and International Consensus Classification 2022 Definitions, a Single-Centre Retrospective Chart Review
by Shamim Mortuza, Benjamin Chin-Yee, Tyler E. James, Ian H. Chin-Yee, Benjamin D. Hedley, Jenny M. Ho, Lalit Saini, Alejandro Lazo-Langner, Laila Schenkel, Pratibha Bhai, Bekim Sadikovic, Jonathan Keow, Nikhil Sangle and Cyrus C. Hsia
Curr. Oncol. 2024, 31(4), 1762-1773; https://doi.org/10.3390/curroncol31040134 - 29 Mar 2024
Cited by 1 | Viewed by 1573
Abstract
Myelodysplastic neoplasms (MDS) with ring sideroblasts (RS) are diagnosed via bone marrow aspiration in the presence of either (i) ≥15% RS or (ii) 5–14% RS and an SF3B1 mutation. In the MEDALIST trial and in an interim analysis of the COMMANDS trial, lower-risk [...] Read more.
Myelodysplastic neoplasms (MDS) with ring sideroblasts (RS) are diagnosed via bone marrow aspiration in the presence of either (i) ≥15% RS or (ii) 5–14% RS and an SF3B1 mutation. In the MEDALIST trial and in an interim analysis of the COMMANDS trial, lower-risk MDS-RS patients had decreased transfusion dependency with luspatercept treatment. A total of 6817 patients with suspected hematologic malignancies underwent molecular testing using a next-generation-sequencing-based genetic assay and 395 MDS patients, seen at our centre from 1 January 2018 to 31 May 2023, were reviewed. Of these, we identified 39 evaluable patients as having lower-risk MDS with SF3B1 mutations: there were 20 (51.3%) males and 19 (48.7%) females, with a median age of 77 years (range of 57 to 92). Nineteen (48.7%) patients had an isolated SF3B1 mutation with a mean variant allele frequency of 35.2% +/− 8.1%, ranging from 7.4% to 46.0%. There were 29 (74.4%) patients with ≥15% RS, 6 (15.4%) with 5 to 14% RS, one (2.6%) with 1% RS, and 3 (7.7%) with no RS. Our study suggests that a quarter of patients would be missed based on the morphologic criterion of only using RS greater than 15% and supports the revised 2022 definitions of the World Health Organization (WHO) and International Consensus Classification (ICC), which shift toward molecularly defined subtypes of MDS and appropriate testing. Full article
(This article belongs to the Special Issue The Molecular Pathology of Myelodysplastic Syndromes)
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Review

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11 pages, 671 KiB  
Review
A Brief Overview of the Molecular Landscape of Myelodysplastic Neoplasms
by Rami Abdulbaki and Sheeja T. Pullarkat
Curr. Oncol. 2024, 31(5), 2353-2363; https://doi.org/10.3390/curroncol31050175 - 23 Apr 2024
Cited by 1 | Viewed by 1785
Abstract
Myelodysplastic neoplasm (MDS) is a heterogeneous group of clonal hematological disorders that originate from the hematopoietic and progenitor cells and present with cytopenias and morphologic dysplasia with a propensity to progress to bone marrow failure or acute myeloid leukemia (AML). Genetic evolution plays [...] Read more.
Myelodysplastic neoplasm (MDS) is a heterogeneous group of clonal hematological disorders that originate from the hematopoietic and progenitor cells and present with cytopenias and morphologic dysplasia with a propensity to progress to bone marrow failure or acute myeloid leukemia (AML). Genetic evolution plays a critical role in the pathogenesis, progression, and clinical outcomes of MDS. This process involves the acquisition of genetic mutations in stem cells that confer a selective growth advantage, leading to clonal expansion and the eventual development of MDS. With the advent of next-generation sequencing (NGS) assays, an increasing number of molecular aberrations have been discovered in recent years. The knowledge of molecular events in MDS has led to an improved understanding of the disease process, including the evolution of the disease and prognosis, and has paved the way for targeted therapy. The 2022 World Health Organization (WHO) Classification and the International Consensus Classification (ICC) have incorporated the molecular signature into the classification system for MDS. In addition, specific germline mutations are associated with MDS development, especially in pediatrics and young adults. This article reviews the genetic abnormalities of MDS in adults with a brief review of germline predisposition syndromes. Full article
(This article belongs to the Special Issue The Molecular Pathology of Myelodysplastic Syndromes)
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Other

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6 pages, 771 KiB  
Case Report
Concurrent Waldenstrom’s Macroglobulinemia and Myelodysplastic Syndrome with a Sequent t(10;13)(p13;q22) Translocation
by Peter A. DeRosa, Kyle C. Roche, Victor E. Nava, Sunita Singh, Min-Ling Liu and Anita Agarwal
Curr. Oncol. 2022, 29(7), 4587-4592; https://doi.org/10.3390/curroncol29070363 - 29 Jun 2022
Cited by 2 | Viewed by 2719
Abstract
Myelodysplastic syndromes (MDS) and Waldenstrom’s macroglobulinemia (WM) are rarely synchronous. Ineffective myelopoiesis/hematopoiesis with clonal unilineage or multilineage dysplasia and cytopenias characterize MDS. Despite a myeloid origin, MDS can sometimes lead to decreased production, abnormal apoptosis or dysmaturation of B cells, and the development [...] Read more.
Myelodysplastic syndromes (MDS) and Waldenstrom’s macroglobulinemia (WM) are rarely synchronous. Ineffective myelopoiesis/hematopoiesis with clonal unilineage or multilineage dysplasia and cytopenias characterize MDS. Despite a myeloid origin, MDS can sometimes lead to decreased production, abnormal apoptosis or dysmaturation of B cells, and the development of lymphoma. WM includes bone marrow involvement by lymphoplasmacytic lymphoma (LPL) secreting monoclonal immunoglobulin M (IgM) with somatic mutation (L265P) of myeloid differentiation primary response 88 gene (MYD88) in 80–90%, or various mutations of C-terminal domain of the C-X-C chemokine receptor type 4 (CXCR4) gene in 20–40% of cases. A unique, progressive case of concurrent MDS and WM with several somatic mutations (some unreported before) and a novel balanced reciprocal translocation between chromosomes 10 and 13 is presented below. Full article
(This article belongs to the Special Issue The Molecular Pathology of Myelodysplastic Syndromes)
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