{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:38:24Z","timestamp":1787027904525,"version":"build-2736575974"},"reference-count":31,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2024,3,29]],"date-time":"2024-03-29T00:00:00Z","timestamp":1711670400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Current Oncology"],"abstract":"<jats:p>Myelodysplastic neoplasms (MDS) with ring sideroblasts (RS) are diagnosed via bone marrow aspiration in the presence of either (i) \u226515% RS or (ii) 5\u201314% 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% +\/\u2212 8.1%, ranging from 7.4% to 46.0%. There were 29 (74.4%) patients with \u226515% 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.<\/jats:p>","DOI":"10.3390\/curroncol31040134","type":"journal-article","created":{"date-parts":[[2024,4,4]],"date-time":"2024-04-04T11:11:09Z","timestamp":1712229069000},"page":"1762-1773","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["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"],"prefix":"10.3390","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-9741-4348","authenticated-orcid":false,"given":"Shamim","family":"Mortuza","sequence":"first","affiliation":[{"name":"Department of Medicine, Division of Hematology, London Health Sciences Centre, London, ON N6A 5W9, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0737-3603","authenticated-orcid":false,"given":"Benjamin","family":"Chin-Yee","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Hematology, London Health Sciences Centre, London, ON N6A 5W9, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tyler E.","family":"James","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Hematology, University of Ottawa, Ottawa, ON K1H 8M5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian H.","family":"Chin-Yee","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Hematology, London Health Sciences Centre, London, ON N6A 5W9, Canada"},{"name":"Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, ON N6A 5W9, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin D.","family":"Hedley","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, ON N6A 5W9, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny M.","family":"Ho","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Hematology, London Health Sciences Centre, London, ON N6A 5W9, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lalit","family":"Saini","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Hematology, London Health Sciences Centre, London, ON N6A 5W9, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Lazo-Langner","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Hematology, London Health Sciences Centre, London, ON N6A 5W9, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laila","family":"Schenkel","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, ON N6A 5W9, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pratibha","family":"Bhai","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, ON N6A 5W9, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bekim","family":"Sadikovic","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, ON N6A 5W9, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5985-4770","authenticated-orcid":false,"given":"Jonathan","family":"Keow","sequence":"additional","affiliation":[{"name":"Edmonton Base Lab, Alberta Precision Laboratories, Edmonton, AB T2N 1M7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikhil","family":"Sangle","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, ON N6A 5W9, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4287-6708","authenticated-orcid":false,"given":"Cyrus C.","family":"Hsia","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Hematology, London Health Sciences Centre, London, ON N6A 5W9, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,3,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1001\/jama.2022.14578","article-title":"Diagnosis and Treatment of Myelodysplastic Syndromes: A Review: A Review","volume":"328","author":"Sekeres","year":"2022","journal-title":"JAMA"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1872","DOI":"10.1056\/NEJMra0902908","article-title":"Myelodysplastic Syndromes","volume":"361","author":"Tefferi","year":"2009","journal-title":"N. 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