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.

Autor: Mortuza S; Department of Medicine, Division of Hematology, London Health Sciences Centre, London, ON N6A 5W9, Canada., Chin-Yee B; Department of Medicine, Division of Hematology, London Health Sciences Centre, London, ON N6A 5W9, Canada., James TE; Department of Medicine, Division of Hematology, University of Ottawa, Ottawa, ON K1H 8M5, Canada., Chin-Yee IH; Department of Medicine, Division of Hematology, London Health Sciences Centre, London, ON N6A 5W9, Canada.; Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, ON N6A 5W9, Canada., Hedley BD; Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, ON N6A 5W9, Canada., Ho JM; Department of Medicine, Division of Hematology, London Health Sciences Centre, London, ON N6A 5W9, Canada., Saini L; Department of Medicine, Division of Hematology, London Health Sciences Centre, London, ON N6A 5W9, Canada., Lazo-Langner A; Department of Medicine, Division of Hematology, London Health Sciences Centre, London, ON N6A 5W9, Canada., Schenkel L; Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, ON N6A 5W9, Canada., Bhai P; Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, ON N6A 5W9, Canada., Sadikovic B; Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, ON N6A 5W9, Canada., Keow J; Edmonton Base Lab, Alberta Precision Laboratories, Edmonton, AB T2N 1M7, Canada., Sangle N; Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, ON N6A 5W9, Canada., Hsia CC; Department of Medicine, Division of Hematology, London Health Sciences Centre, London, ON N6A 5W9, Canada.
Jazyk: angličtina
Zdroj: Current oncology (Toronto, Ont.) [Curr Oncol] 2024 Mar 29; Vol. 31 (4), pp. 1762-1773. Date of Electronic Publication: 2024 Mar 29.
DOI: 10.3390/curroncol31040134
Abstrakt: 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.
Databáze: MEDLINE
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