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 Chillon, Maria Carmen
A1 Larrayoz, Maria J.
A1 Carrillo-Cruz, Estrella
A1 Bilbao, Cristina
A1 Yebenes-Ramirez, Manuel
A1 Llop, Marta
A1 Rapado, Inmaculada
A1 Garcia-Sanz, Ramon
A1 Vazquez, Iria
A1 Soria, Elena
A1 Florido-Ortega, Yanira
A1 Janusz, Kamila
A1 Botella, Carmen
A1 Serrano, Josefina
A1 Martinez-Cuadron, David
A1 Bergua, Juan
A1 Amigo, Mari Luz
A1 Martinez-Sanchez, Pilar
A1 Tormo, Mar
A1 Bernal, Teresa
A1 Herrera-Puente, Pilar
A1 Garcia, Raimundo
A1 Algarra, Lorenzo
A1 Sayas, Maria J.
A1 Costilla-Barriga, Lisette
A1 Perez-Santolalla, Esther
A1 Marchante, Inmaculada
A1 Lavilla-Rubira, Esperanza
A1 Noriega, Victor
A1 Alonso-Dominguez, Juan M.
A1 Sanz, Miguel A.
A1 Sanchez-Garcia, Joaquin
A1 Gomez-Casares, Maria
A1 Perez-Simon, Jose A.
A1 Calasanz, Maria J.
A1 Gonzalez-Diaz, Marcos
A1 Martinez-Lopez, Joaquin
A1 Barragan, Eva
A1 Montesinos, Pau
A1 PETHEMA Grp, 
K1 Mutations
K1 Remission
K1 Classification
K1 Resistance
K1 Karyotype
K1 Evolution
K1 Disease
K1 Npm1
AB 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.
PB Ferrata storti foundation
SN 0390-6078
YR 2021
FD 2021-12-01
LK https://hdl.handle.net/10668/25272
UL https://hdl.handle.net/10668/25272
LA en
DS RISalud
RD Apr 18, 2025