Please use this identifier to cite or link to this item: http://hdl.handle.net/10553/106530
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)
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