Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project.
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.
PMID: 33179471 [PubMed - in process]
Source: Haematologica - Category: Hematology Authors: Sargas C, Ayala R, Chillón MC, Larráyoz MJ, Carrillo-Cruz E, Bilbao C, Yébenes-Ramírez M, Llop M, Rapado I, García-Sanz R, Vázquez I, Soria E, Florido-Ortega Y, Janusz K, Botella C, Serrano J, Martínez-Cuadrón D, Bergua J, Amigo ML, Martínez-Sán Tags: Haematologica Source Type: research