Deep Sequencing of Cell-Free Peripheral Blood DNA as a Reliable Method for Confirming the Diagnosis of Myelodysplastic Syndrome
| Autor: | Albitar F, Kevin Diep, S. Agersborg, Wanlong Ma, De Dios I, Maher Albitar, S. Brodie, M. Thangavelu |
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| Rok vydání: | 2016 |
| Předmět: |
Male
Cell Biology medicine.disease_cause Sensitivity and Specificity Deep sequencing 03 medical and health sciences chemistry.chemical_compound symbols.namesake 0302 clinical medicine medicine Humans Gene Genetics (clinical) Aged Aged 80 and over Sanger sequencing Mutation Myelodysplastic syndromes High-Throughput Nucleotide Sequencing DNA General Medicine Middle Aged medicine.disease Molecular biology medicine.anatomical_structure chemistry Myelodysplastic Syndromes 030220 oncology & carcinogenesis symbols Nucleic acid Female 030215 immunology |
| Zdroj: | Genetic Testing and Molecular Biomarkers. 20:341-345 |
| ISSN: | 1945-0257 1945-0265 |
| Popis: | Demonstrating the presence of myelodysplastic syndrome (MDS)-specific molecular abnormalities can aid in diagnosis and patient management. We explored the potential of using peripheral blood (PB) cell-free DNA (cf-DNA) and next-generation sequencing (NGS).We performed NGS on a panel of 14 target genes using total nucleic acid extracted from the plasma of 16 patients, all of whom had confirmed diagnoses for early MDS with blasts5%. PB cellular DNA from the same patients was sequenced using conventional Sanger sequencing and NGS.Deep sequencing of the cf-DNA identified one or more mutated gene(s), confirming the diagnosis of MDS in all cases. Five samples (31%) showed abnormalities in cf-DNA by NGS that were not detected by Sanger sequencing on cellular PB DNA. NGS of PB cell DNA showed the same findings as those of cf-DNA in four of five patients, but failed to show a mutation in the RUNX1 gene that was detected in one patient's cf-DNA. Mutant allele frequency was significantly higher in cf-DNA compared with cellular DNA (p = 0.008).These data suggest that cf-DNA when analyzed using NGS is a reliable approach for detecting molecular abnormalities in MDS and should be used to determine if bone marrow aspiration and biopsy are necessary. |
| Databáze: | OpenAIRE |
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