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Diaz-Beya, MarinaAuthor
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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 prognosis

Publicated to:Frontiers In Oncology. 14 1385987- - 2024-07-01 14(), DOI: 10.3389/fonc.2024.1385987

Authors: Xicoy, Blanca; Pomares, Helena; Morgades, Mireia; Germing, Ulrich; Arnan, Montserrat; Tormo, Mar; Palomo, Laura; Orna, Elisa; Della Porta, Matteo; Schulz, Felicitas; Diaz-Beya, Marina; Esteban, Ada; Molero, Antonieta; Lanino, Luca; Avendano, Alejandro; Hernandez, Francisca; Roldan, Veronica; Ubezio, Marta; Pineda, Alberto; Diez-Campelo, Maria; Zamora, Lurdes

Affiliations

Heinrich Heine Univ Klinikum, Dept Hematol Oncol & Clin Immunol, Dusseldorf, Germany - Author
Hosp Clin Barcelona, Hematol Dept, Barcelona, Spain - Author
Hosp Clin Univ Valencia, Hematol Dept, Valencia, Spain - Author
Hosp Germans Trias i Pujol, Inst Catala Oncol, Hematol Dept, Badalona, Spain - Author
Hosp Germans Trias i Pujol, Josep Carreras Leukemia Res Inst, Myeloid Neoplasms Grp, Badalona, Spain - Author
Hosp San Pedro, Hematol Dept, Logrono, Spain - Author
Hosp Univ Cruces, Hematol Dept, Baracaldo, Vizcaya, Spain - Author
Hosp Univ Salamanca, Hematol Dept, Salamanca, Spain - Author
Hosp Univ Vall dHebro, Hematol Dept, Barcelona, Spain - Author
Hosp Univ Virgen de las Nieves, Hematol Dept, Granada, Spain - Author
Human Res Hosp, IRCCS, Hematol Dept, Milan, Italy - Author
Univ Barcelona, Hosp Duran i Reynals, Inst Catala Oncol, Inst Invest Biomed Bellvitge IDIBELL,Hematol Dept, LHospitalet De Llobregat, Barcelona, Spain - Author
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Abstract

Introduction Chronic myelomonocytic leukemia (CMML) and myelodysplastic syndromes (MDS) with ring sideroblasts (RS) or SF3B1 mutation (MDS-RS/SF3B1) differ in many clinical features, but share others, such as anemia. RS and SF3B1 mutation can also be found in CMML. Methods We compared CMML with and without RS/SF3B1 and MDS-RS/SF3B1 considering the criteria established by the 2022 World Health Organization classification. Results A total of 815 patients were included (CMML, n=319, CMML-RS/SF3B1, n=172 and MDS-RS/SF3B1, n=324). The percentage of RS was >= 15% in almost all CMML-RS/SF3B1 patients (169, 98.3%) and most (125, 72.7%) showed peripheral blood monocyte counts between 0.5 and 0.9 x109/L and low risk prognostic categories. CMML-RS/SF3B1 differed significantly from classical CMML in the main clinical characteristics, whereas it resembled MDS-RS/SF3B1. At a molecular level, CMML and CMML-RS/SF3B1 had a significantly higher frequency of mutations in TET2 (mostly multi-hit) and ASXL1 (p=0.013) and CMML had a significantly lower frequency of DNMT3A and SF3B1 mutations compared to CMML/MDS-RS/SF3B1. 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/SF3B1 vs. 3.17 years (95% CI 2.56-3.79) for CMML vs. 16.47 years (NA) for MDS-RS/SF3B1, p= 15% RS and/or SF3B1 in CMML is associated with a low monocyte count. SF3B1 mutation clearly improves the prognosis of CMML.

Keywords
CmmlCmml-rs/sf3b1EfficacyEpoetin-alphaHealth-organization classificationLuspaterceptMds-rs/sf3b1Mutational profileMyeloid neoplasmsOpen-labelPhase-3PhenotypePrevalencePrognosiPrognosisProposalsSafet

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Frontiers In Oncology due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2024 there are still no calculated indicators, but in 2023, it was in position 107/322, thus managing to position itself as a Q2 (Segundo Cuartil), in the category Oncology. Notably, the journal is positioned en el Cuartil Q2 para la agencia Scopus (SJR) en la categoría Oncology.

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-05-24:

  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 2 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

    It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

    • The work has been submitted to a journal whose editorial policy allows open Open Access publication.
    Leadership analysis of institutional authors

    This work has been carried out with international collaboration, specifically with researchers from: Germany; Granada; Italy.