Cell-free DNA and bone marrow samples from myelodysplastic syndromes

We have assessed the molecular profile of a cohort of 70 patients with MDS by next-generation sequencing (NGS) using cfDNA and compared the results to paired bone marrow (BM) DNA. Sequencing of BM DNA and cfDNA showed a comparable mutational profile and variant allele frequencies (VAF) strongly correlated between both sample types. Our results support the analysis of cfDNA as a promising strategy for performing molecular characterization, detection of chromosomal aberrations and monitoring of MDS patients.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

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Dataset ID	Description	Technology	Samples
EGAD00001008567	We have assessed the molecular profile of a cohort of 70 patients with MDS by next-generation sequencing (NGS) using cfDNA and compared the results to paired bone marrow (BM) DNA.	NextSeq 500	140

Publications	Citations
Molecular and cytogenetic characterization of myelodysplastic syndromes in cell-free DNA. Garcia-Gisbert N, Garcia-Ávila S, Merchán B, Salido M, Fernández-Rodríguez C, Gibert J, Fernández-Ibarrondo L, Camacho L, Lafuente M, Longarón R, Espinet B, Vélez P, Pujol RM, Andrade-Campos M, Arenillas L, Salar A, Calvo X, Besses C, Bellosillo B. Blood Adv 6: 2022 3178-3188	5