{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["6(10)"],"submitter":["Garcia-Gisbert N"],"pubmed_abstract":["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 VAFs"],"journal":["Blood advances"],"pagination":["3178-3188"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9131900"],"repository":["biostudies-literature"],"pubmed_title":["Molecular and cytogenetic characterization of myelodysplastic syndromes in cell-free DNA."],"pmcid":["PMC9131900"],"pubmed_authors":["Lafuente M","Salido M","Longaron R","Espinet B","Andrade-Campos M","Merchan B","Camacho L","Garcia-Gisbert N","Arenillas L","Bellosillo B","Calvo X","Garcia-Avila S","Gibert J","Besses C","Velez P","Salar A","Fernandez-Rodriguez C","Fernandez-Ibarrondo L","Pujol RM"],"additional_accession":[]},"is_claimable":false,"name":"Molecular and cytogenetic characterization of myelodysplastic syndromes in cell-free DNA.","description":"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 VAFs","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 May","modification":"2026-05-09T18:57:05.536Z","creation":"2025-04-05T19:56:26.502Z"},"accession":"S-EPMC9131900","cross_references":{"pubmed":["35192693"],"doi":["10.1182/bloodadvances.2021006565"]}}