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Molecular Landscape and Validation of New Genomic Classification in 2668 Adult AML Patients: Real Life Data from the PETHEMA Registry

2023; Multidisciplinary Digital Publishing Institute; Volume: 15; Issue: 2 Linguagem: Inglês

10.3390/cancers15020438

2072-6694

Claudia Sargas, Rosa Ayala, María José Larráyoz, Carmen Chillón, Estrella Carrillo‐Cruz, Cristina Bilbao, Esther Prados de la Torre, David Martínez‐Cuadrón, Rebeca Rodríguez‐Veiga, Blanca Boluda, Cristina Gil, Teresa Bernal, Juan Bergua, Lorenzo Algarra, Mar Tormo, Pilar Martínez‐Sánchez, Elena Soria, Josefina Serrano, Juan Manuel Alonso‐Domínguez, Raimundo García‐Boyero, María Luz Amigo, Pilar Herrera‐Puente, María J. Sayas, Esperanza Lavilla, Joaquin Martínez‐López, Marı́a José Calasanz, Ramón García‐Sánz, José Antonio Pérez‐Simón, María Teresa Gómez‐Casares, Joaquín Sánchez‐García, Eva Barragán, Pau Montesinos,

Chronic Myeloid Leukemia Treatments

Next-Generation Sequencing (NGS) implementation to perform accurate diagnosis in acute myeloid leukemia (AML) represents a major challenge for molecular laboratories in terms of specialization, standardization, costs and logistical support. In this context, the PETHEMA cooperative group has established the first nationwide diagnostic network of seven reference laboratories to provide standardized NGS studies for AML patients. Cross-validation (CV) rounds are regularly performed to ensure the quality of NGS studies and to keep updated clinically relevant genes recommended for NGS study. The molecular characterization of 2856 samples (1631 derived from the NGS-AML project; NCT03311815) with standardized NGS of consensus genes (