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Special Issue Editor

Dr. Victor E. Nava

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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

Published Papers (2 papers)

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Research

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12 pages, 788 KiB

Open AccessArticle

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

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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 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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6 pages, 771 KiB

Open AccessCase 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 1 | Viewed by 2297

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 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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