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Título

A new next-generation sequencing strategy for the simultaneous analysis of mutations and chromosomal rearrangements at DNA level in acute myeloid leukemia patients

AutorPrieto-Conde, Isabel; Corchete, Luis A.; García-Alvarez, María; Jiménez, Cristina; Medina, Alejandro; Balanzategui, Ana; Hernández-Ruano, Montserrat; Maldonado, Rebeca; Sarasquete, María Eugenia; Alcoceba, Miguel; Puig, Noemi; González-Calle, Verónica; García-Sanz, Ramón; Gutiérrez, Norma Carmen; González, Marcos CSIC ORCID ; Chillón, M. del Carmen
Fecha de publicación2020
EditorElsevier
CitaciónThe Journal of Molecular Diagnostics 22(1): 60-71 (2020)
ResumenAcute myeloid leukemias (AMLs) are currently genomically characterized by karyotype, fluorescence in situ hybridization (FISH), real-time quantitative PCR, and DNA sequencing. Next-generation sequencing offers the promise of detecting all genomic lesions in a single run. However, technical limitations have hampered the detection of chromosomal rearrangements, so most studies are limited to somatic mutation assessment or require the use of RNA-based strategies. To overcome these limitations, we designed a targeted-DNA capture next-generation sequencing approach associated with easy-to-perform public bioinformatic tools for one-step identification of translocations, inversions, and somatic mutations in AML. Thirty well-characterized newly diagnosed myeloid leukemia patients (27 AML and 3 chronic myeloid leukemia) were tested with the panel. Twenty-three of 24 known rearrangements, as well as one novel fusion gene that could not be detected by karyotype/fluorescence in situ hybridization/real-time quantitative PCR, were detected. This strategy also identified all chromosomal breakpoints as potential targets for future high-sensitive minimal residual disease studies. In addition, mutation analysis revealed the presence of missense protein-coding alterations in at least 1 of the 32 genes evaluated in 21 of 30 patients (70%). This strategy may represent a time- and cost-effective diagnostic method for molecular characterization in AML.
Versión del editorhttps://doi.org/10.1016/j.jmoldx.2019.08.002
URIhttp://hdl.handle.net/10261/222708
DOI10.1016/j.jmoldx.2019.08.002
ISSN1525-1578
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