Artículo
Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project
Autor/es | Sargas, Claudia
Ayala, Rosa Chillón, María del Carmen Larráyoz, María J. Carrillo-Cruz, Estrella Bilbao, Cristina Pérez Simón, José Antonio Montesinos, Pau |
Departamento | Universidad de Sevilla. Departamento de Medicina |
Fecha de publicación | 2021-12 |
Fecha de depósito | 2022-12-22 |
Publicado en |
|
Resumen | Next-generation sequencing (NGS) has recently been introduced to efficiently and simultaneously detect genetic variations in acute myeloid leukemia (AML). However, its implementation in the clinical routine raises new ... Next-generation sequencing (NGS) has recently been introduced to efficiently and simultaneously detect genetic variations in acute myeloid leukemia (AML). However, its implementation in the clinical routine raises new challenges focused on the diversity of assays and variant reporting criteria. In order 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 NGS panel genes during the standardization process and the clinical validation in 823 samples of 751 patients with newly diagnosed or refractory/relapse AML. 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 NGS 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 AML patients of the PETHEMA group (clinicaltrials gov. Identifier: NCT03311815). |
Agencias financiadoras | "Una manera de hacer Europa" (Innocampus) CEI-2010-1-0010 Celgene grant CRIS against Cancer foundation 2018/001 Fundacion Espanola de Hematologia y Hemoterapia Instituto de Investigacion Sanitaria La Fe 2019-052-1 Instituto de Salud Carlos III PI15/01706; PI16/00517; PI16/0665; PI16/01530; PI18/01340; PI18/01946; PI19/00730; PI19/01518; FI19/00059 |
Identificador del proyecto | CIBERONC-CB16/12/00233
CEI-2010-1-0010 2018/001 2019-052-1 PI15/01706 PI16/00517 PI16/0665 PI16/01530 PI18/01340 PI18/01946 PI19/00730 PI19/01518 FI19/00059 |
Cita | Sargas, C., Ayala, R., Chillón, M.d.C., Larráyoz, M.J., Carrillo-Cruz, E., Bilbao, C.,...,Montesinos, P. (2021). Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project. Haematologica, 106 (12), 3079-3089. https://doi.org/10.3324/haematol.2020.263806. |
Ficheros | Tamaño | Formato | Ver | Descripción |
---|---|---|---|---|
Networking for advanced molecular ... | 1.403Mb | [PDF] | Ver/ | |