Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project
| Autor: | Pilar Martínez-Sánchez, Elena Soria, Kamila Janusz, Pau Montesinos, Claudia Sargas, Maria Jose Sayas, María Teresa Gómez-Casares, Estrella Carrillo-Cruz, Yanira Florido-Ortega, Pilar Herrera-Puente, Eva Barragán, Carmen Botella, Lisette Costilla-Barriga, Manuel Yébenes-Ramírez, María José Calasanz, María José Larrayoz, Esther Pérez-Santolalla, Victor Noriega, Raimundo García, Josefina Serrano, Teresa Bernal, Mari Luz Amigo, David Martínez-Cuadrón, Iria Vázquez, Inmaculada Rapado, Esperanza Lavilla-Rubira, Cristina Bilbao, Rosa Ayala, Inmaculada Marchante, Joaquin Sanchez-Garcia, Joaquin Martinez-Lopez, Miguel A. Sanz, María C. Chillón, José Antonio Pérez-Simón, Juan M. Alonso-Domínguez, Juan Bergua, Lorenzo Algarra, Marcos González-Díaz, Ramón García-Sanz, Mar Tormo, Marta Llop |
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| Rok vydání: | 2021 |
| Předmět: |
Oncology
medicine.medical_specialty Remission Evolution Concordance Resistance Karyotype MEDLINE Context (language use) Newly diagnosed Article 03 medical and health sciences 0302 clinical medicine Recurrence Internal medicine medicine Humans Disease business.industry High-Throughput Nucleotide Sequencing Myeloid leukemia Hematology Clinical routine Classification Leukemia Myeloid Acute Mutation NPM1 business Mutations 030215 immunology |
| Zdroj: | Dadun. Depósito Académico Digital de la Universidad de Navarra Universitat Oberta de Catalunya (UOC) HAEMATOLOGICA r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA instname r-FISABIO: Repositorio Institucional de Producción Científica Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO) r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe HAEMATOLOGICA-THE HEMATOLOGY JOURNAL r-FISABIO. Repositorio Institucional de Producción Científica Haematologica |
| ISSN: | 0390-6078 |
| Popis: | 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. This cooperative nationwide strategy provides advanced molecular diagnostic for acute myeloid leukemia patients of the PETHEMA group. |
| Databáze: | OpenAIRE |
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