期刊
JOURNAL OF MOLECULAR DIAGNOSTICS
卷 22, 期 1, 页码 60-71出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.jmoldx.2019.08.002
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资金
- Fundacion Espanola de Hematologia y Hemoterapia (FEHH)
- Spanish Association Against Cancer Scientific Foundation (AECC)
- Miguel Servet program from the Instituto de Salud Carlos III (ISCIII), Ministerio de Ciencia, Innovacion y Universidades, Spain [CP13/00080]
- Beca de investigacion FEHH-CRIS 2018
- ISCIII [PI15/01706, CIBERONCCB16/12/00233, CEI-2010-1-0010]
Acute 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.
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