{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T17:08:27Z","timestamp":1785776907807,"version":"3.56.0"},"reference-count":35,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,7,1]],"date-time":"2024-07-01T00:00:00Z","timestamp":1719792000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>Chronic myelomonocytic leukemia (CMML) and myelodysplastic syndromes (MDS) with ring sideroblasts (RS) or <jats:italic>SF3B1<\/jats:italic> mutation (MDS-RS\/<jats:italic>SF3B1<\/jats:italic>) differ in many clinical features, but share others, such as anemia. RS and <jats:italic>SF3B1<\/jats:italic> mutation can also be found in CMML.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We compared CMML with and without RS\/<jats:italic>SF3B1<\/jats:italic> and MDS-RS\/<jats:italic>SF3B1<\/jats:italic> considering the criteria established by the 2022 World Health Organization classification.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 815 patients were included (CMML, n=319, CMML-RS\/<jats:italic>SF3B1<\/jats:italic>, n=172 and MDS-RS\/<jats:italic>SF3B1<\/jats:italic>, n=324). The percentage of RS was \u226515% in almost all CMML-RS\/<jats:italic>SF3B1<\/jats:italic> patients (169, 98.3%) and most (125, 72.7%) showed peripheral blood monocyte counts between 0.5 and 0.9 x10<jats:sup>9<\/jats:sup>\/L and low risk prognostic categories. CMML-RS\/<jats:italic>SF3B1<\/jats:italic> differed significantly from classical CMML in the main clinical characteristics, whereas it resembled MDS-RS\/<jats:italic>SF3B1<\/jats:italic>. At a molecular level, CMML and CMML-RS\/<jats:italic>SF3B1<\/jats:italic> had a significantly higher frequency of mutations in <jats:italic>TET2<\/jats:italic> (mostly multi-hit) and <jats:italic>ASXL1<\/jats:italic> (p=0.013) and CMML had a significantly lower frequency of <jats:italic>DNMT3A<\/jats:italic> and <jats:italic>SF3B1<\/jats:italic> mutations compared to CMML\/MDS-RS\/<jats:italic>SF3B1<\/jats:italic>. Differences in the median overall survival among the three groups were statistically significant: 6.75 years (95% confidence interval [CI] 5.41-8.09) for CMML-RS\/<jats:italic>SF3B1<\/jats:italic> vs. 3.17 years (95% CI 2.56-3.79) for CMML vs. 16.47 years (NA) for MDS-RS\/<jats:italic>SF3B1<\/jats:italic>, p&amp;lt;0.001. Regarding patients with CMML and MDS, both with <jats:italic>SF3B1<\/jats:italic> mutation, survival did not significantly differ. CMML had a higher risk of transformation to acute myeloid leukemia (24% at 8 years, 95%CI 19%-30%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>CMML-RS\/<jats:italic>SF3B1<\/jats:italic> mutation resembles MDS-RS\/<jats:italic>SF3B1<\/jats:italic> in terms of phenotype and clearly differs from CMML. The presence of \u226515% RS and\/or <jats:italic>SF3B1<\/jats:italic> in CMML is associated with a low monocyte count. <jats:italic>SF3B1<\/jats:italic> mutation clearly improves the prognosis of CMML.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fonc.2024.1385987","type":"journal-article","created":{"date-parts":[[2024,7,1]],"date-time":"2024-07-01T05:02:50Z","timestamp":1719810170000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":6,"title":["Chronic myelomonocytic leukemia with ring sideroblasts\/SF3B1 mutation presents with low monocyte count and resembles myelodysplastic syndromes with-RS\/SF3B1 mutation in terms of phenotype and 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