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Open AccessArticle

Next-Generation Sequencing Improves Diagnosis, Prognosis and Clinical Management of Myeloid Neoplasms

Department of Hematology, Gregorio Marañón General University Hospital, 28007 Madrid, Spain
Gregorio Marañón Health Research Institute (IiSGM), 28007 Madrid, Spain
Genomics Unit, Gregorio Marañón General University Hospital, IiSGM, 28007 Madrid, Spain
Sistemas Genómicos, 46980 Valencia, Spain
Department of Medicine, School of Medicine, Complutense University of Madrid, 28040 Madrid, Spain
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Cancers 2019, 11(9), 1364;
Received: 21 August 2019 / Revised: 4 September 2019 / Accepted: 10 September 2019 / Published: 13 September 2019
(This article belongs to the Collection Application of Bioinformatics in Cancers)
Molecular diagnosis of myeloid neoplasms (MN) is based on the detection of multiple genetic alterations using various techniques. Next-generation sequencing (NGS) has been proved as a useful method for analyzing many genes simultaneously. In this context, we analyzed diagnostic samples from 121 patients affected by MN and ten relapse samples from a subset of acute myeloid leukemia patients using two enrichment-capture NGS gene panels. Pathogenicity classification of variants was enhanced by the development and application of a custom onco-hematology score. A total of 278 pathogenic variants were detected in 84% of patients. For structural alterations, 82% of those identified by cytogenetics were detected by NGS, 25 of 31 copy number variants and three out of three translocations. The detection of variants using NGS changed the diagnosis of seven patients and the prognosis of 15 patients and enabled us to identify 44 suitable candidates for clinical trials. Regarding AML, six of the ten relapsed patients lost or gained variants, comparing with diagnostic samples. In conclusion, the use of NGS panels in MN improves genetic characterization of the disease compared with conventional methods, thus demonstrating its potential clinical utility in routine clinical testing. This approach leads to better-adjusted treatments for each patient. View Full-Text
Keywords: Next-generation sequencing; myeloid neoplasm; routine diagnosis; acute myeloid leukemia Next-generation sequencing; myeloid neoplasm; routine diagnosis; acute myeloid leukemia
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Carbonell, D.; Suárez-González, J.; Chicano, M.; Andrés-Zayas, C.; Triviño, J.C.; Rodríguez-Macías, G.; Bastos-Oreiro, M.; Font, P.; Ballesteros, M.; Muñiz, P.; Balsalobre, P.; Kwon, M.; Anguita, J.; Díez-Martín, J.L.; Buño, I.; Martínez-Laperche, C. Next-Generation Sequencing Improves Diagnosis, Prognosis and Clinical Management of Myeloid Neoplasms. Cancers 2019, 11, 1364.

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