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dc.creatorSargas, C. (Claudia)-
dc.creatorAyala, R. (Rosa)-
dc.creatorChillón, M.C. (María del Carmen)-
dc.creatorLarrayoz, M.J. (María J.)-
dc.creatorCarrillo-Cruz, E. (Estrella)-
dc.creatorBilbao, C. (Cristina)-
dc.creatorYébenes-Ramírez, M. (Manuel)-
dc.creatorLlop, M. (Marta)-
dc.creatorRapado, I. (Inmaculada)-
dc.creatorGarcía-Sanz, R. (Ramón)-
dc.creatorVazquez, I. (Iria)-
dc.creatorSoria, E. (Elena)-
dc.creatorFlorido-Ortega, Y. (Yanira)-
dc.creatorJanusz, K. (Kamila)-
dc.creatorBotella, C. (Carmen)-
dc.creatorSerrano, J. (Josefina)-
dc.creatorMartínez-Cuadron, D. (David)-
dc.creatorBergua, J. (J.)-
dc.creatorAmigo, M.L. (Mari Luz)-
dc.creatorMartínez-Sánchez, P. (Pilar)-
dc.creatorTormo, M. (Mar)-
dc.creatorBernal, T. (Teresa)-
dc.creatorHerrera-Puente, P. (Pilar)-
dc.creatorGarcía-Boyero, R. (Raimundo)-
dc.creatorAlgarra, L. (Lorenzo)-
dc.creatorSayas, M.J. (María J.)-
dc.creatorCostilla-Barriga, L. (Lisette)-
dc.creatorPérez-Santolalla, E. (Esther)-
dc.creatorMarchante, I. (Inmaculada)-
dc.creatorLavilla, E. (Esperanza)-
dc.creatorNoriega, V. (Víctor)-
dc.creatorAlonso-Domínguez, J.M. (Juan M.)-
dc.creatorSanz, M.A. (Miguel A.)-
dc.creatorSánchez-García, J. (Joaquín)-
dc.creatorGomez-Casares, M.T. (María T.)-
dc.creatorPerez-Simon, J.A. (José Antonio)-
dc.creatorCalasanz-Abinzano, M.J. (Maria Jose)-
dc.creatorGonzález-Díaz, M. (Marcos)-
dc.creatorMartínez-López, J. (Joaquín)-
dc.creatorBarragán, E. (Eva)-
dc.creatorMontesinos, P. (Pau)-
dc.date.accessioned2022-02-09T08:38:23Z-
dc.date.available2022-02-09T08:38:23Z-
dc.date.issued2021-
dc.identifier.citationSargas, C.; Ayala, R.; Chillón, M. C.; et al. "Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project". Haematologica. 106 (12), 2021, 3079 - 3089es
dc.identifier.issn0390-6078-
dc.identifier.urihttps://hdl.handle.net/10171/62895-
dc.description.abstractNext-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.-
dc.description.sponsorshipThis work was partially supported by a Celgene grant, the Subdirección General de Investigación Sanitaria (Instituto de Salud Carlos III, Spain) Spanish Ministry of Economy and Competitiveness: PI15/01706, PI16/00517 PI16/0665, PI16/01530, PI18/01340, PI18/01946 PI19/00730, PI19/01518, FI19/00059, Fundación Española de Hematología y Hemoterapia (FEHH) grant, CRIS against Cancer foundation 2018/001. CIBERONC-CB16/12/00233 and “Una manera de hacer Europa” (Innocampus; CEI-2010-1-0010), Instituto de Investigación Sanitaria La Fe (Contrato de Investigación postresidentes 2019-052-1)-
dc.language.isoen-
dc.rightsinfo:eu-repo/semantics/openAccess-
dc.subjectMutations-
dc.subjectRemission-
dc.subjectClassification-
dc.subjectResistance-
dc.subjectKaryotype-
dc.subjectEvolution-
dc.subjectDisease-
dc.subjectNPM1-
dc.titleNetworking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project-
dc.typeinfo:eu-repo/semantics/article-
dc.description.noteCC BY NC-
dc.identifier.doi10.3324/haematol.2020.263806-
dadun.citation.endingPage3089-
dadun.citation.number12-
dadun.citation.publicationNameHaematologica-
dadun.citation.startingPage3079-
dadun.citation.volume106-

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