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

2020; Ferrata Storti Foundation; Volume: 106; Issue: 12 Linguagem: Inglês

10.3324/haematol.2020.263806

1592-8721

Claudia Sargas, Rosa Ayala, Carmen Chillón, María José Larráyoz, Estrella Carrillo‐Cruz, Cristina Bilbao, Manuel Yébenes-Ramírez, Marta Llop, Inmaculada Rapado, Ramón García‐Sánz, Iria Vázquez, Elena Soria, Yanira Florido-Ortega, Kamila Janusz, Carmen Botella, Josefina Serrano, David Martínez‐Cuadrón, Juan Bergua, Mari Luz Amigo, Pilar Martínez‐Sánchez, Mar Tormo, Teresa Bernal, Pilar Herrera‐Puente, Raimundo García, Lorenzo Algarra, María J. Sayas, Lisette Costilla-Barriga, Esther Pérez-Santolalla, Inmaculada Marchante, Esperanza Lavilla, Víctor Noriega, Juan Manuel Alonso‐Domínguez, Miguel Á. Sanz, Joaquín Sánchez‐García, María Teresa Gómez‐Casares, José Antonio Pérez‐Simón, Marı́a José Calasanz, Marcos González, Joaquin Martínez‐López, Eva Barragán, Pau Montesinos,

Myeloproliferative Neoplasms: Diagnosis and Treatment

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.