RT Journal Article
T1 Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project.
A1 Sargas, Claudia
A1 Ayala, Rosa
A1 Chillón, María Carmen
A1 Larráyoz, María J
A1 Carrillo-Cruz, Estrella
A1 Bilbao, Cristina
A1 Yébenes-Ramírez, Manuel
A1 Llop, Marta
A1 Rapado, Inmaculada
A1 García-Sanz, Ramón
A1 Vázquez, Iria
A1 Soria, Elena
A1 Florido-Ortega, Yanira
A1 Janusz, Kamila
A1 Botella, Carmen
A1 Serrano, Josefina
A1 Martínez-Cuadrón, David
A1 Bergua, Juan
A1 Amigo, Mari Luz
A1 Martínez-Sánchez, Pilar
A1 Tormo, Mar
A1 Bernal, Teresa
A1 Herrera-Puente, Pilar
A1 García, Raimundo
A1 Algarra, Lorenzo
A1 Sayas, María J
A1 Costilla-Barriga, Lisette
A1 Pérez-Santolalla, Esther
A1 Marchante, Inmaculada
A1 Lavilla-Rubira, Esperanza
A1 Noriega, Víctor
A1 Alonso-Domínguez, Juan M
A1 Sanz, Miguel Á
A1 Sánchez-Garcia, Joaquín
A1 Gómez-Casares, María T
A1 Pérez-Simón, José A
A1 Calasanz, María J
A1 González-Díaz, Marcos
A1 Martínez-López, Joaquín
A1 Barragán, Eva
A1 Montesinos, Pau
AB 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.
YR 2021
FD 2021-12-01
LK https://hdl.handle.net/10668/25271
UL https://hdl.handle.net/10668/25271
LA en
DS RISalud
RD Apr 17, 2025