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Title: | Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project | Authors: | Sargas, Claudia Ayala, Rosa Chillón, María Carmen Larráyoz, María J. Carrillo-Cruz, Estrella Bilbao Sieyro, 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 |
UNESCO Clasification: | 32 Ciencias médicas 320101 Oncología |
Keywords: | Molecular diagnosis Myeloid leukemia PETHEMA |
Issue Date: | 2021 | Journal: | Haematologica | Abstract: | Next-Generation Sequencing has recently been introduced to efficiently and simultaneously detect genetic variations in acute myeloid leukemia. However, its implementation in the clinical routine raises new challenges focused on the diversity of assays and variant reporting criteria. 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 next-generation sequencing panel genes during the standardization process and the clinical validation in 823 samples of 751 patients with newly diagnosed or refractory/relapse acute myeloid leukemia. 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 next-generation sequencing 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 acute myeloid leukemia patients of the PETHEMA group. | URI: | http://hdl.handle.net/10553/106530 | ISSN: | 1592-8721 | DOI: | 10.3324/haematol.2020.263806 | Source: | Haematologica [ISSN 1592-8721], v. 106(12) |
Appears in Collections: | Artículos |
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