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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

Authors :
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
Cyrus C. Hsia
Source :
Current Oncology, Vol 31, Iss 4, Pp 1762-1773 (2024)
Publication Year :
2024
Publisher :
MDPI AG, 2024.

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.

Details

Language :
English
ISSN :
17187729 and 11980052
Volume :
31
Issue :
4
Database :
Directory of Open Access Journals
Journal :
Current Oncology
Publication Type :
Academic Journal
Accession number :
edsdoj.1389c9740fa14069b7cf278763e6f132
Document Type :
article
Full Text :
https://doi.org/10.3390/curroncol31040134