Prognostic impact of next-generation sequencing on myelodysplastic syndrome: A single-center experience

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dc.authorid0000-0001-7509-8020
dc.contributor.authorBulbul, Hale
dc.contributor.authorKaya, Ozge Ozer
dc.contributor.authorKaradag, Fatma Keklik
dc.contributor.authorOlgun, Aybuke
dc.contributor.authorDemirci, Zuhal
dc.contributor.authorCeylan, Cengiz
dc.date.accessioned2025-04-21T08:32:06Z
dc.date.available2025-04-21T08:32:06Z
dc.date.issued2024
dc.departmentEge Üniversitesi, Tıp Fakültesi, Dahili Bilimler Bölümü, Kardiyoloji Ana Bilim Dalı
dc.description.abstractMyelodysplastic syndromes (MDS) are clinically heterogeneous disorders characterized by peripheral blood cytopenias, poor differentiation, clonal hematopoiesis, and increased risk of developing acute myeloid leukemia (AML). While somatic mutations do not currently feature in prognostic scoring systems, they may impact the clinical phenotype. In recent years, next-generation sequencing (NGS) has enabled the opportunity to identify an increasing number of genetic abnormalities, including recurrent modifications in the TP53, DNMT3A, NRAS, NPM1, RUNX1, and FLT3 genes. Bone marrow aspirate samples of 56 patients with MDS were investigated for mutations using NGS. We compared the relationship between gene mutation status and laboratory characteristics, such as certain cytopenias, the revised international prognostic scoring system, MDS subtypes, karyotypes, AML development, and overall survival. Twenty-one genes were found to have gene mutations, including ASXL1, TET2, SRSF2, EZH2, CSF3R, NRAS, ETV6, SETBP1, RUNX1, DDX41, U2AF1, JAK2, FLT3ITD, SF3B1, DNAMT3A, PHF6, TP53, CEBPA, CBL, IDH2, and GATA2. At least one point mutation occurred in 64.2% of all patients, including 58.3% of those with normal cytogenetics. Thrombocytopenia (P = .016), anemia (P = .018), decreased overall survival (P = .017), and increased AML transformation (P = .023) have been revealed to be linked to non-SF3B1 mutations. MDS are frequently associated with somatic point mutations. According to early findings, NGS panels are extremely effective instruments that provide an entirely new viewpoint on the disease for particular individuals. Future prognostications will depend more on NGS because those who exhibit normal cytogenetics may additionally have gene mutations.
dc.identifier.citationBülbül, H., Kaya, Ö. Ö., Karadağ, F. K., Olgun, A., Demirci, Z., & Ceylan, C. (2024). Prognostic impact of next-generation sequencing on myelodysplastic syndrome: A single-center experience. Medicine (Baltimore), 103(41), e39909.
dc.identifier.doi10.1097/MD.0000000000039909
dc.identifier.endpage8
dc.identifier.issn00257974
dc.identifier.issue41
dc.identifier.pmid39465815
dc.identifier.scopus2-s2.0-85207339828
dc.identifier.scopusqualityQ2
dc.identifier.startpage1
dc.identifier.urihttps://doi.org/10.1097/MD.0000000000039909
dc.identifier.urihttps://hdl.handle.net/11454/117127
dc.identifier.volume103
dc.identifier.wosWOS:001338585900068
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorDemirci, Zuhal
dc.institutionauthorid0000-0001-7509-8020
dc.language.isoen
dc.publisherLippincott Williams & Wilkins
dc.relation.ispartofMedicine
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectgene mutations
dc.subjectnormal cytogenetics
dc.subjectoverall survival
dc.titlePrognostic impact of next-generation sequencing on myelodysplastic syndrome: A single-center experience
dc.typeArticle

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