Comprehensive custom ngs panel validation for the improvement of the stratification of b-acute lymphoblastic leukemia patients
© 2020 by the authors.
| Autores: | , , , , , , , , , , , , , , , , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2020 |
| País: | España |
| Institución: | Consejo Superior de Investigaciones Científicas (CSIC) |
| Repositorio: | DIGITAL.CSIC. Repositorio Institucional del CSIC |
| OAI Identifier: | oai:digital.csic.es:10261/226481 |
| Acceso en línea: | http://hdl.handle.net/10261/226481 |
| Access Level: | acceso abierto |
| Palabra clave: | Acute lymphoblastic leukemia NGS Genetic alterations Diagnosis |
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España |
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| dc.title.none.fl_str_mv |
Comprehensive custom ngs panel validation for the improvement of the stratification of b-acute lymphoblastic leukemia patients |
| title |
Comprehensive custom ngs panel validation for the improvement of the stratification of b-acute lymphoblastic leukemia patients |
| spellingShingle |
Comprehensive custom ngs panel validation for the improvement of the stratification of b-acute lymphoblastic leukemia patients Montaño, Adrián Acute lymphoblastic leukemia NGS Genetic alterations Diagnosis |
| title_short |
Comprehensive custom ngs panel validation for the improvement of the stratification of b-acute lymphoblastic leukemia patients |
| title_full |
Comprehensive custom ngs panel validation for the improvement of the stratification of b-acute lymphoblastic leukemia patients |
| title_fullStr |
Comprehensive custom ngs panel validation for the improvement of the stratification of b-acute lymphoblastic leukemia patients |
| title_full_unstemmed |
Comprehensive custom ngs panel validation for the improvement of the stratification of b-acute lymphoblastic leukemia patients |
| title_sort |
Comprehensive custom ngs panel validation for the improvement of the stratification of b-acute lymphoblastic leukemia patients |
| dc.creator.none.fl_str_mv |
Montaño, Adrián Hernandez-Sánchez, Jesus M. Forero-Castro, Maribel Matorra-Miguel, María Lumbreras, Eva Miguel, Cristina Santos-Mínguez, Sandra Ramírez-Maldonado, Valentina Fuster, José Luis Heras, Natalia de las García de Coca, Alfonso Sierra, Magdalena Dávila, Julio Fuente, Ignacio de la Olivier, Carmen Olazabal, Juan Martínez, Joaquín Vega-García, Nerea González, Teresa Hernández, Jesús M. Benito, Rocío |
| author |
Montaño, Adrián |
| author_facet |
Montaño, Adrián Hernandez-Sánchez, Jesus M. Forero-Castro, Maribel Matorra-Miguel, María Lumbreras, Eva Miguel, Cristina Santos-Mínguez, Sandra Ramírez-Maldonado, Valentina Fuster, José Luis Heras, Natalia de las García de Coca, Alfonso Sierra, Magdalena Dávila, Julio Fuente, Ignacio de la Olivier, Carmen Olazabal, Juan Martínez, Joaquín Vega-García, Nerea González, Teresa Hernández, Jesús M. Benito, Rocío |
| author_role |
author |
| author2 |
Hernandez-Sánchez, Jesus M. Forero-Castro, Maribel Matorra-Miguel, María Lumbreras, Eva Miguel, Cristina Santos-Mínguez, Sandra Ramírez-Maldonado, Valentina Fuster, José Luis Heras, Natalia de las García de Coca, Alfonso Sierra, Magdalena Dávila, Julio Fuente, Ignacio de la Olivier, Carmen Olazabal, Juan Martínez, Joaquín Vega-García, Nerea González, Teresa Hernández, Jesús M. Benito, Rocío |
| author2_role |
author author author author author author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Junta de Castilla y León Fundación Castellano Leonesa de Hematología y Hemoterapia Centro de Investigación Biomédica en Red Cáncer (España) Instituto de Salud Carlos III Asociación Española Contra el Cáncer Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72] |
| dc.subject.none.fl_str_mv |
Acute lymphoblastic leukemia NGS Genetic alterations Diagnosis |
| topic |
Acute lymphoblastic leukemia NGS Genetic alterations Diagnosis |
| description |
© 2020 by the authors. |
| publishDate |
2020 |
| dc.date.none.fl_str_mv |
2020 2021 2021 2021 |
| dc.type.none.fl_str_mv |
info:eu-repo/semantics/article http://purl.org/coar/resource_type/c_6501 Publisher's version info:eu-repo/semantics/publishedVersion |
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article |
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publishedVersion |
| dc.identifier.none.fl_str_mv |
http://hdl.handle.net/10261/226481 |
| url |
http://hdl.handle.net/10261/226481 |
| dc.language.none.fl_str_mv |
Inglés |
| language_invalid_str_mv |
Inglés |
| dc.relation.none.fl_str_mv |
http://dx.doi.org/10.3390/jpm10030137 Sí |
| dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess |
| eu_rights_str_mv |
openAccess |
| dc.publisher.none.fl_str_mv |
Multidisciplinary Digital Publishing Institute |
| publisher.none.fl_str_mv |
Multidisciplinary Digital Publishing Institute |
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reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC instname:Consejo Superior de Investigaciones Científicas (CSIC) |
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Consejo Superior de Investigaciones Científicas (CSIC) |
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DIGITAL.CSIC. Repositorio Institucional del CSIC |
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DIGITAL.CSIC. Repositorio Institucional del CSIC |
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| _version_ |
1869413639181565952 |
| spelling |
Comprehensive custom ngs panel validation for the improvement of the stratification of b-acute lymphoblastic leukemia patientsMontaño, AdriánHernandez-Sánchez, Jesus M.Forero-Castro, MaribelMatorra-Miguel, MaríaLumbreras, EvaMiguel, CristinaSantos-Mínguez, SandraRamírez-Maldonado, ValentinaFuster, José LuisHeras, Natalia de lasGarcía de Coca, AlfonsoSierra, MagdalenaDávila, JulioFuente, Ignacio de laOlivier, CarmenOlazabal, JuanMartínez, JoaquínVega-García, NereaGonzález, TeresaHernández, Jesús M.Benito, RocíoAcute lymphoblastic leukemiaNGSGenetic alterationsDiagnosis© 2020 by the authors.[Background]: B-acute lymphoblastic leukemia (B-ALL) is a hematological neoplasm of the stem lymphoid cell of the B lineage, characterized by the presence of genetic alterations closely related to the course of the disease. The number of alterations identified in these patients grows as studies of the disease progress, but in clinical practice, the conventional techniques frequently used are only capable of detecting the most common alterations. However, techniques, such as next-generation sequencing (NGS), are being implemented to detect a wide spectrum of new alterations that also include point mutations. Methods: In this study, we designed and validated a comprehensive custom NGS panel to detect the main genetic alterations present in the disease in a single step. For this purpose, 75 B-ALL diagnosis samples from patients previously characterized by standard-of-care diagnostic techniques were sequenced. [Results]: The use of the custom NGS panel allowed the correct detection of the main genetic alterations present in B-ALL patients, including the presence of an aneuploid clone in 14 of the samples and some of the recurrent fusion genes in 35 of the samples. The panel was also able to successfully detect a number of secondary alterations, such as single nucleotide variants (SNVs) and copy number variations (CNVs) in 66 and 46 of the samples analyzed, respectively, allowing for further refinement of the stratification of patients. The custom NGS panel could also detect alterations with a high level of sensitivity and reproducibility when the findings obtained by NGS were compared with those obtained from other conventional techniques. [Conclusions]: The use of this custom NGS panel allows us to quickly and efficiently detect the main genetic alterations present in B-ALL patients in a single assay (SNVs and insertions/deletions (INDELs), recurrent fusion genes, CNVs, aneuploidies, and single nucleotide polymorphisms (SNPs) associated with pharmacogenetics). The application of this panel would thus allow us to speed up and simplify the molecular diagnosis of patients, helping patient stratification and management.This work was financially supported in part by a grant from the Consejería de Educación, Junta de Castilla y León, Fondos FEDER (SA085U16, SA271P18), and the Regional Council of Castilla y León SACYL, (GRS 2062/A/19, GRS 1847/A/18), Fundación Castellano Leonesa de Hematología y Hemoterapia (FUCALHH 2017), Proyectos de Investigación en Biomedicina, Gestión Sanitaria y Atención Sociosanitaria del IBSAL (IBY17/00006), Centro de Investigación Biomédica en Red de Cáncer (CIBERONC CB16/12/00233), SYNtherapy. Synthetic Lethality for Personalized Therapy-based Stratification In Acute Leukemia (ERAPERMED2018-275); ISCIII (AC18/00093), co-funded by ERDF/ESF, “Investing in your future” and a grant to AM from the Junta Provincial de Salamanca of the Asociación Española Contra el Cáncer (AECC).Multidisciplinary Digital Publishing InstituteJunta de Castilla y LeónFundación Castellano Leonesa de Hematología y HemoterapiaCentro de Investigación Biomédica en Red Cáncer (España)Instituto de Salud Carlos IIIAsociación Española Contra el CáncerConsejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]2021202120202021info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501Publisher's versioninfo:eu-repo/semantics/publishedVersionhttp://hdl.handle.net/10261/226481reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)Ingléshttp://dx.doi.org/10.3390/jpm10030137Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/2264812026-05-22T06:33:51Z |
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15.811543 |