biostudies-literatureUnknown6(10)Garcia-Gisbert NMolecular and cytogenetic studies are essential for diagnosis and prognosis in patients with myelodysplastic syndromes (MDSs). Cell-free DNA (cfDNA) analysis has been reported to be a reliable noninvasive approach for detecting molecular abnormalities in MDS; however, there is limited information about cytogenetic alterations and monitoring in cfDNA. We assessed the molecular and cytogenetic profile of a cohort of 70 patients with MDS by next-generation sequencing (NGS) of cfDNA and compared the results to sequencing of paired bone marrow (BM) DNA. Sequencing of BM DNA and cfDNA showed a comparable mutational profile (92.1% concordance), and variant allele frequencies (VAFs) strongly correlated between both sample types. Of note, SF3B1 mutations were detected with significantly higher VAFsBlood advances3178-3188https://www.ebi.ac.uk/biostudies/studies/S-EPMC9131900biostudies-literatureMolecular and cytogenetic characterization of myelodysplastic syndromes in cell-free DNA.PMC9131900Lafuente MSalido MLongaron REspinet BAndrade-Campos MMerchan BCamacho LGarcia-Gisbert NArenillas LBellosillo BCalvo XGarcia-Avila SGibert JBesses CVelez PSalar AFernandez-Rodriguez CFernandez-Ibarrondo LPujol RMfalseMolecular and cytogenetic characterization of myelodysplastic syndromes in cell-free DNA.Molecular and cytogenetic studies are essential for diagnosis and prognosis in patients with myelodysplastic syndromes (MDSs). Cell-free DNA (cfDNA) analysis has been reported to be a reliable noninvasive approach for detecting molecular abnormalities in MDS; however, there is limited information about cytogenetic alterations and monitoring in cfDNA. We assessed the molecular and cytogenetic profile of a cohort of 70 patients with MDS by next-generation sequencing (NGS) of cfDNA and compared the results to sequencing of paired bone marrow (BM) DNA. Sequencing of BM DNA and cfDNA showed a comparable mutational profile (92.1% concordance), and variant allele frequencies (VAFs) strongly correlated between both sample types. Of note, SF3B1 mutations were detected with significantly higher VAFs2022-01-01T00:00:00Z2022 May2026-05-09T18:57:05.536Z2025-04-05T19:56:26.502ZS-EPMC91319003519269310.1182/bloodadvances.2021006565