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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...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Fondazione Ferrata Storti
2020
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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). |
format | Online Article Text |
id | pubmed-8634186 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Fondazione Ferrata Storti |
record_format | MEDLINE/PubMed |
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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