Sánchez-García, J. (Joaquín)

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20213

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    Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project
    (2021) García-Boyero, R. (Raimundo); Serrano, J. (Josefina); Yébenes-Ramírez, M. (Manuel); Martínez-López, J. (Joaquín); Perez-Simon, J.A. (José Antonio); Amigo, M.L. (Mari Luz); Montesinos, P. (Pau); Martínez-Sánchez, P. (Pilar); García-Sanz, R. (Ramón); Florido-Ortega, Y. (Yanira); Sánchez-García, J. (Joaquín); Bergua, J. (Juan); Bernal, T. (Teresa); Ayala, R. (Rosa); Lavilla, E. (Esperanza); Tormo, M. (Mar); Costilla-Barriga, L. (Lisette); Llop, M. (Marta); Rapado, I. (Inmaculada); Janusz, K. (Kamila); Sanz, M.A. (Miguel A.); Herrera-Puente, P. (Pilar); Algarra, L. (Lorenzo); González-Díaz, M. (Marcos); Pérez-Santolalla, E. (Esther); Gomez-Casares, M.T. (María T.); Vazquez, I. (Iria); Barragán, E. (Eva); Noriega, V. (Víctor); Larrayoz, M.J. (María J.); Botella, C. (Carmen); Sargas, C. (Claudia); Soria, E. (Elena); Chillón, M.C. (María del Carmen); Calasanz-Abinzano, M.J. (Maria Jose); Martínez-Cuadron, D. (David); Alonso-Domínguez, J.M. (Juan M.); Marchante, I. (Inmaculada); Bilbao, C. (Cristina); Sayas, M.J. (María J.); Carrillo-Cruz, E. (Estrella)
    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.
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    Prognostic signifcance of FLT3‑ITD length inAML patients treated with intensive regimens
    (Springer Nature, 2021) Castaño‑Bonilla, T. (Tamara); Alonso-Domínguez, J.M. (Juan M.); Barragán, E. (Eva); Rodríguez-Veiga, R. (Rebeca); Sargas, C. (Claudia); Gil, C. (Cristina); Chillón, M.C. (María del Carmen); Vidriales, M.B. (María Belén); García-Boyero, R. (Raimundo); Martínez-López, J. (Joaquín); Ayala, R. (Rosa); Larrayoz, M.J. (María J.); Anguita, E. (Eduardo); Cuello, R. (Rebeca); Cantalapiedra, A. (Alberto); Carrillo-Cruz, E. (Estrella); Soria, E. (Elena); Labrador, J. (Jorge); Recio, I. (Isabel); Algarra, L. (Lorenzo); Rodríguez-Medina, C. (Carlos); Bilbao, C. (Cristina); López, J.A. (Juan A.); Serrano, J. (Josefna); Cabo, E. (Erik) de; Sayas, M.J. (María J.); Olave, M.T. (María T.); Sánchez-García, J. (Joaquín); Mateos, M. (Mamen); Blas, C. (Carlos)
    FLT3-ITD mutations are detected in approximately 25% of newly diagnosed adult acute myeloid leukemia (AML) patients and confer an adverse prognosis. The FLT3-ITD allelic ratio has clear prognostic value. Nevertheless, there are numerous manuscripts with contradictory results regarding the prognostic relevance of the length and insertion site (IS) of the FLT3-ITD fragment. We aimed to assess the prognostic impact of these variables on the complete remission (CR) rates, overall survival (OS) and relapse-free survival (RFS) of AML patients with FLT3-ITDmutations. We studied the FLT3-ITD length of 362 adult AML patients included in the PETHEMA AML registry. We tried to validate the thresholds of ITD length previously published (i.e., 39 bp and 70 bp) in intensively treated AML patients (n = 161). We also analyzed the mutational profile of 118 FLT3-ITD AML patients with an NGS panel of 39 genes and correlated mutational status with the length and IS of ITD. The AUC of the ROC curve of the ITD length for OS prediction was 0.504, and no differences were found when applying any of the thresholds for OS, RFS or CR rate. Only four out of 106 patients had ITD IS in the TKD1 domain. Our results, alongside previous publications, confirm that FLT3-ITD length lacks prognostic value and clinical applicability.
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    Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project
    (2021) Sargas, C. (Claudia); Ayala, R. (Rosa); Chillón, M.C. (María del Carmen); Larrayoz, M.J. (María José); Carrillo-Cruz, E. (Estrella); Bilbao, C. (Cristina); Yébenes-Ramírez, M. (Manuel); Llop, M. (Marta); Rapado, I. (Inmaculada); García-Sanz, R. (Ramón); Vazquez, I. (Iria); Soria, E. (Elena); Florido-Ortega, Y. (Yanira); Janusz, K. (Kamila); Botella, C. (Carmen); Serrano, J. (Josefina); Martínez-Cuadron, D. (David); Bergua, J. (Juan); Amigo, M.L. (Mari Luz); Martínez-Sánchez, P. (Pilar); Bernal, T. (Teresa); Herrera-Puente, P. (Pilar); García-Boyero, R. (Raimundo); Algarra, L. (Lorenzo); Sayas, M.J. (María J.); Costilla-Barriga, L. (Lisette); Pérez-Santolalla, E. (Esther); Marchante, I. (Inmaculada); Noriega, V. (Víctor); Alonso-Domínguez, J.M. (Juan M.); Sanz, M.A. (Miguel A.); Sánchez-García, J. (Joaquín); Calasanz-Abinzano, M.J. (Maria Jose)
    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).