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Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project

Next-generation sequencing (NGS) has recently been introduced to efficiently and simultaneously detect genetic variations in acute myeloid leukemia (AML). However, its implementation in the clinical routine raises new challenges focused on the diversity of assays and variant reporting criteria. In o...

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Autores principales: Sargas, Claudia, Ayala, Rosa, Chillón, María Carmen, Larráyoz, María J., Carrillo-Cruz, Estrella, Bilbao, Cristina, Yébenes-Ramírez, Manuel, Llop, Marta, Rapado, Inmaculada, García-Sanz, Ramón, Vázquez, Iria, Soria, Elena, Florido-Ortega, Yanira, Janusz, Kamila, Botella, Carmen, Serrano, Josefina, Martínez-Cuadrón, David, Bergua, Juan, Amigo, Mari Luz, Martínez-Sánchez, Pilar, Tormo, Mar, Bernal, Teresa, Herrera-Puente, Pilar, García, Raimundo, Algarra, Lorenzo, Sayas, María J., Costilla-Barriga, Lisette, Pérez-Santolalla, Esther, Marchante, Inmaculada, Lavilla-Rubira, Esperanza, Noriega, Víctor, Alonso-Domínguez, Juan M., Sanz, Miguel Á., Sánchez-Garcia, Joaquín, Gómez-Casares, María T., Pérez-Simón, José A., Calasanz, María J., González-Díaz, Marcos, Martínez-López, Joaquín, Barragán, Eva, Montesinos, Pau
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Fondazione Ferrata Storti 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8634186/
https://www.ncbi.nlm.nih.gov/pubmed/33179471
http://dx.doi.org/10.3324/haematol.2020.263806
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author Sargas, Claudia
Ayala, Rosa
Chillón, María Carmen
Larráyoz, María J.
Carrillo-Cruz, Estrella
Bilbao, Cristina
Yébenes-Ramírez, Manuel
Llop, Marta
Rapado, Inmaculada
García-Sanz, Ramón
Vázquez, Iria
Soria, Elena
Florido-Ortega, Yanira
Janusz, Kamila
Botella, Carmen
Serrano, Josefina
Martínez-Cuadrón, David
Bergua, Juan
Amigo, Mari Luz
Martínez-Sánchez, Pilar
Tormo, Mar
Bernal, Teresa
Herrera-Puente, Pilar
García, Raimundo
Algarra, Lorenzo
Sayas, María J.
Costilla-Barriga, Lisette
Pérez-Santolalla, Esther
Marchante, Inmaculada
Lavilla-Rubira, Esperanza
Noriega, Víctor
Alonso-Domínguez, Juan M.
Sanz, Miguel Á.
Sánchez-Garcia, Joaquín
Gómez-Casares, María T.
Pérez-Simón, José A.
Calasanz, María J.
González-Díaz, Marcos
Martínez-López, Joaquín
Barragán, Eva
Montesinos, Pau
author_facet Sargas, Claudia
Ayala, Rosa
Chillón, María Carmen
Larráyoz, María J.
Carrillo-Cruz, Estrella
Bilbao, Cristina
Yébenes-Ramírez, Manuel
Llop, Marta
Rapado, Inmaculada
García-Sanz, Ramón
Vázquez, Iria
Soria, Elena
Florido-Ortega, Yanira
Janusz, Kamila
Botella, Carmen
Serrano, Josefina
Martínez-Cuadrón, David
Bergua, Juan
Amigo, Mari Luz
Martínez-Sánchez, Pilar
Tormo, Mar
Bernal, Teresa
Herrera-Puente, Pilar
García, Raimundo
Algarra, Lorenzo
Sayas, María J.
Costilla-Barriga, Lisette
Pérez-Santolalla, Esther
Marchante, Inmaculada
Lavilla-Rubira, Esperanza
Noriega, Víctor
Alonso-Domínguez, Juan M.
Sanz, Miguel Á.
Sánchez-Garcia, Joaquín
Gómez-Casares, María T.
Pérez-Simón, José A.
Calasanz, María J.
González-Díaz, Marcos
Martínez-López, Joaquín
Barragán, Eva
Montesinos, Pau
author_sort Sargas, Claudia
collection PubMed
description Next-generation sequencing (NGS) has recently been introduced to efficiently and simultaneously detect genetic variations in acute myeloid leukemia (AML). However, its implementation in the clinical routine raises new challenges focused on the diversity of assays and variant reporting criteria. In order to overcome this challenge, the PETHEMA group established a nationwide network of reference laboratories aimed to deliver molecular results in the clinics. We report the technical cross-validation results for NGS panel genes during the standardization process and the clinical validation in 823 samples of 751 patients with newly diagnosed or refractory/relapse AML. Two cross-validation rounds were performed in seven nationwide reference laboratories in order to reach a consensus regarding quality metrics criteria and variant reporting. In the pre-standardization cross-validation round, an overall concordance of 60.98% was obtained with a great variability in selected genes and conditions across laboratories. After consensus of relevant genes and optimization of quality parameters the overall concordance rose to 85.57% in the second cross-validation round. We show that a diagnostic network with harmonized NGS analysis and reporting in seven experienced laboratories is feasible in the context of a scientific group. This cooperative nationwide strategy provides advanced molecular diagnostic for AML patients of the PETHEMA group (clinicaltrials gov. Identifier: NCT03311815).
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spelling pubmed-86341862021-12-17 Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project Sargas, Claudia Ayala, Rosa Chillón, María Carmen Larráyoz, María J. Carrillo-Cruz, Estrella Bilbao, Cristina Yébenes-Ramírez, Manuel Llop, Marta Rapado, Inmaculada García-Sanz, Ramón Vázquez, Iria Soria, Elena Florido-Ortega, Yanira Janusz, Kamila Botella, Carmen Serrano, Josefina Martínez-Cuadrón, David Bergua, Juan Amigo, Mari Luz Martínez-Sánchez, Pilar Tormo, Mar Bernal, Teresa Herrera-Puente, Pilar García, Raimundo Algarra, Lorenzo Sayas, María J. Costilla-Barriga, Lisette Pérez-Santolalla, Esther Marchante, Inmaculada Lavilla-Rubira, Esperanza Noriega, Víctor Alonso-Domínguez, Juan M. Sanz, Miguel Á. Sánchez-Garcia, Joaquín Gómez-Casares, María T. Pérez-Simón, José A. Calasanz, María J. González-Díaz, Marcos Martínez-López, Joaquín Barragán, Eva Montesinos, Pau Haematologica Article Next-generation sequencing (NGS) has recently been introduced to efficiently and simultaneously detect genetic variations in acute myeloid leukemia (AML). However, its implementation in the clinical routine raises new challenges focused on the diversity of assays and variant reporting criteria. In order to overcome this challenge, the PETHEMA group established a nationwide network of reference laboratories aimed to deliver molecular results in the clinics. We report the technical cross-validation results for NGS panel genes during the standardization process and the clinical validation in 823 samples of 751 patients with newly diagnosed or refractory/relapse AML. Two cross-validation rounds were performed in seven nationwide reference laboratories in order to reach a consensus regarding quality metrics criteria and variant reporting. In the pre-standardization cross-validation round, an overall concordance of 60.98% was obtained with a great variability in selected genes and conditions across laboratories. After consensus of relevant genes and optimization of quality parameters the overall concordance rose to 85.57% in the second cross-validation round. We show that a diagnostic network with harmonized NGS analysis and reporting in seven experienced laboratories is feasible in the context of a scientific group. This cooperative nationwide strategy provides advanced molecular diagnostic for AML patients of the PETHEMA group (clinicaltrials gov. Identifier: NCT03311815). Fondazione Ferrata Storti 2020-11-12 /pmc/articles/PMC8634186/ /pubmed/33179471 http://dx.doi.org/10.3324/haematol.2020.263806 Text en Copyright© 2021 Ferrata Storti Foundation https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution Noncommercial License (by-nc 4.0) which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.
spellingShingle Article
Sargas, Claudia
Ayala, Rosa
Chillón, María Carmen
Larráyoz, María J.
Carrillo-Cruz, Estrella
Bilbao, Cristina
Yébenes-Ramírez, Manuel
Llop, Marta
Rapado, Inmaculada
García-Sanz, Ramón
Vázquez, Iria
Soria, Elena
Florido-Ortega, Yanira
Janusz, Kamila
Botella, Carmen
Serrano, Josefina
Martínez-Cuadrón, David
Bergua, Juan
Amigo, Mari Luz
Martínez-Sánchez, Pilar
Tormo, Mar
Bernal, Teresa
Herrera-Puente, Pilar
García, Raimundo
Algarra, Lorenzo
Sayas, María J.
Costilla-Barriga, Lisette
Pérez-Santolalla, Esther
Marchante, Inmaculada
Lavilla-Rubira, Esperanza
Noriega, Víctor
Alonso-Domínguez, Juan M.
Sanz, Miguel Á.
Sánchez-Garcia, Joaquín
Gómez-Casares, María T.
Pérez-Simón, José A.
Calasanz, María J.
González-Díaz, Marcos
Martínez-López, Joaquín
Barragán, Eva
Montesinos, Pau
Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project
title Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project
title_full Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project
title_fullStr Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project
title_full_unstemmed Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project
title_short Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project
title_sort networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the pethema ngs-aml project
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8634186/
https://www.ncbi.nlm.nih.gov/pubmed/33179471
http://dx.doi.org/10.3324/haematol.2020.263806
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